Torbiele nerek – Etiologia i przyczyny

Torbiele nerek
Etiologia i przyczyny

Torbiele nerek stanowią heterogenną grupę zmian o zróżnicowanej etiologii, obejmującą zarówno torbiele proste, nabyte, jak i genetycznie uwarunkowane choroby torbielowate, takie jak ADPKD (mutacje w genach PKD1 – 78% przypadków, PKD2 – 15%) oraz ARPKD (mutacje w genie PKHD1). Patogeneza prostych torbieli wiąże się z teoriami osłabienia powierzchniowej warstwy nerki, blokady kanalików, powstawania uchyłków oraz lokalnego niedokrwienia. W chorobach genetycznych kluczową rolę odgrywają zaburzenia funkcji rzęsek pierwotnych komórek nabłonka kanalików nerkowych, prowadzące do nieprawidłowości w szlakach sygnałowych, zwłaszcza w przekaźniku cAMP, co skutkuje zwiększoną proliferacją komórek i wydzielaniem płynu do torbieli. Częstość występowania prostych torbieli wzrasta z wiekiem, sięgając około 50% u osób powyżej 50. roku życia, z przewagą u mężczyzn.

Etiologia torbieli nerek

Torbiele nerek stanowią heterogenną grupę zmian, różniących się pod względem etiologii, przebiegu klinicznego i znaczenia prognostycznego. Zjawisko powstawania torbieli w nerkach wciąż nie jest do końca wyjaśnione, jednak wyróżnia się kilka głównych mechanizmów ich powstawania, w zależności od typu torbieli i choroby podstawowej.¹²

Proste torbiele nerek

Proste torbiele nerek są najczęściej spotykanym rodzajem torbieli i najczęściej mają charakter łagodny. Dokładna przyczyna ich powstawania nie jest w pełni poznana, jednak badacze przedstawiają kilka teorii dotyczących ich patogenezy:³⁴

Teoria osłabienia powierzchniowej warstwy nerki – jedna z głównych teorii zakłada, że torbiele powstają, gdy powierzchniowa warstwa nerki ulega osłabieniu i tworzy uwypuklenie (uchyłek). Powstała kieszeń wypełnia się płynem, oddziela się i tworzy torbiel⁵
Teoria blokady kanalików nerkowych – torbiele mogą powstawać, gdy drobne kanaliki w nerkach, które zbierają mocz, zostają zablokowane, pęcznieją i wypełniają się płynem⁶
Teoria uchyłków – sugeruje, że torbiele powstają, gdy na kanalikach dystalnych nefronu tworzą się uchyłki (diverticula), które następnie wypełniają się płynem⁷
Teoria niedokrwienia – lokalne niedokrwienie związane ze zmianami naczyniowymi w przebiegu starzenia się może powodować obkurczanie się błony podstawnej kanalików i tworzyć warunki do formowania się torbieli⁸

Proste torbiele nerek są nabyte, a nie dziedziczne. Częstość ich występowania rośnie wraz z wiekiem – mają je prawie połowa osób powyżej 50. roku życia. Torbiele częściej występują u mężczyzn niż u kobiet.⁹¹⁰

Genetycznie uwarunkowane torbiele nerek

Wiele chorób torbielowatych nerek ma podłoże genetyczne. Najważniejsze z nich to:¹¹¹²

Autosomalnie dominująca wielotorbielowatość nerek (ADPKD) – najczęstsza genetyczna choroba nerek, wywoływana przez mutacje w genach PKD1 (ok. 78% przypadków) lub PKD2 (ok. 15% przypadków). Choroba dziedziczy się w sposób autosomalny dominujący, co oznacza, że wystarcza jedna kopia zmutowanego genu od jednego rodzica. W około 10% przypadków, mutacja rozwija się spontanicznie, bez występowania choroby u rodziców.¹³¹⁴
Autosomalnie recesywna wielotorbielowatość nerek (ARPKD) – rzadka odmiana, wywoływana przez mutacje w genie PKHD1. Choroba dziedziczy się w sposób autosomalny recesywny, co oznacza, że dziecko musi odziedziczyć dwie kopie zmutowanego genu – po jednej od każdego rodzica. Objawy ARPKD pojawiają się zwykle krótko po urodzeniu lub we wczesnym dzieciństwie.¹⁵¹⁶
Nefronoftyza młodzieńcza (JNPHP) – rzadka dziedziczna choroba cewkowo-śródmiąższowa nerek¹⁷
Torbielowatość rdzenia nerki (MCKD) – dziedziczone autosomalnie dominująco schorzenie powodujące powstawanie torbieli w rdzeniu nerki¹⁸
Kłębuszkowa choroba torbielowata nerek (GCKD) – rzadka choroba charakteryzująca się powiększeniem kłębuszków nerkowych¹⁹

Mechanizm powstawania torbieli w chorobach genetycznych związany jest głównie z zaburzeniami funkcji rzęsek pierwotnych komórek nabłonka kanalików nerkowych. W ADPKD mutacje genów PKD1 lub PKD2 prowadzą do zmniejszenia normalnego poziomu policystyn, które regulują wiele ważnych funkcji komórek kanalików. Powoduje to nieprawidłowości w szlakach sygnałowych komórek, szczególnie w przekaźniku cAMP (cykliczny adenozynomonofosforan), co prowadzi do formowania torbieli poprzez dwa główne mechanizmy:²⁰²¹

Zwiększoną proliferację komórek – komórki wyścielające torbiel namnażają się szybciej niż normalne komórki nerek, powodując wzrost torbieli
Wydzielanie płynu – komórki wyścielające wydzielają płyn do wnętrza torbieli, powodując jej powiększanie

Torbiele nerek w chorobach systemowych

Torbiele nerek mogą również wystąpić jako część innych chorób systemowych:²²²³

Zespół von Hippla-Lindaua (VHL) – choroba dziedziczona autosomalnie dominująco, związana z mutacją w genie VHL znajdującym się na chromosomie 9q34²⁴
Stwardnienie guzowate (TSC) – choroba dziedziczona autosomalnie dominująco, z różną penetracją genu. Około 60-70% przypadków wynika z mutacji spontanicznych. Markery genetyczne zidentyfikowano na chromosomie 9q34 (TSC1, kodujący hamartynę) i chromosomie 16p13 (TSC2, kodujący tuberynę)²⁵
Choroba Fabry’ego – lizosomalna choroba spichrzeniowa²⁶

Nabyte torbiele nerek

Nabyte torbiele nerek mogą rozwinąć się w wyniku różnych czynników środowiskowych i schorzeń medycznych:²⁷²⁸

Nabyta torbielowatość nerek (ACKD) – rozwija się u osób z przewlekłą chorobą nerek, szczególnie u pacjentów poddawanych dializom. Ponad 50% osób poddawanych dializie przez ponad 10 lat rozwija torbiele. Dokładna przyczyna powstawania torbieli w ACKD nie jest znana, ale jedna z teorii sugeruje, że jest to wtórne do niedrożności kanalików spowodowanej zwłóknieniem lub kryształami szczawianów. Inna hipoteza wskazuje na gromadzenie się czynników wzrostu i substancji stymulujących (mocznica), w tym EGF (nabłonkowy czynnik wzrostu)²⁹³⁰
Gąbczastość rdzenia nerki (MSK) – charakteryzuje się torbielowatym poszerzeniem zbiorczych przewodów brodawek, torbielami rdzenia, nefrokalcynozą i kamicą nerkową. Tradycyjnie ta etiologia była klasyfikowana jako spontaniczna wada rozwojowa, jednak może mieć również komponent genetyczny, biorąc pod uwagę, że jest związana z innymi zaburzeniami rozwojowymi i wykazuje skupiska rodzinne³¹
Uraz lub infekcja – przebyte urazy nerek lub infekcje mogą czasami prowadzić do powstania torbieli³²³³

Czynniki ryzyka rozwoju torbieli nerek

Istnieją pewne czynniki, które zwiększają ryzyko rozwoju torbieli nerek:³⁴³⁵

Wiek – prawdopodobieństwo rozwoju prostych torbieli nerek wzrasta wraz z wiekiem, szczególnie po 50. roku życia
Płeć – mężczyźni są około dwukrotnie bardziej narażeni na rozwój torbieli niż kobiety
Nadciśnienie tętnicze – osoby z nadciśnieniem mają zwiększone ryzyko rozwoju torbieli
Palenie tytoniu – palacze są bardziej narażeni na powstawanie torbieli
Przewlekła choroba nerek – prowadzi do zwiększonego ryzyka rozwoju torbieli, szczególnie u osób dializowanych
Predyspozycje genetyczne – występowanie chorób genetycznych, takich jak ADPKD, ARPKD czy zespół von Hippla-Lindaua

W przypadku torbieli wątroby u osób z ADPKD, istotnym czynnikiem ryzyka jest również płeć żeńska oraz wpływ estrogenu. Kobiety, które były w ciąży, stosowały antykoncepcję zawierającą estrogen lub hormonalną terapię zastępczą w okresie menopauzy, mogą rozwinąć torbiele wątroby wcześniej lub bardziej nasilone.³⁶

Rzadkie przyczyny torbieli nerek

Oprócz wymienionych wcześniej przyczyn, torbiele nerek mogą być również związane z:³⁷³⁸

Wielotorbielowata dysplazja nerek (MCDK) – stan, w którym jedna nerka nie ukształtowała się prawidłowo podczas rozwoju płodowego. Choć może mieć podłoże genetyczne, zwykle występuje losowo
Jednostronna choroba torbielowata nerek – rzadka forma choroby torbielowatej ograniczona do jednej nerki
Infekcje pasożytnicze – rzadko, infekcje pasożytnicze takie jak bąblowiec (choroba hydatydowa) mogą prowadzić do tworzenia się torbieli w nerkach
Narażenie na wirusy lub leki – niektóre badania sugerują, że określone infekcje wirusowe i niektóre leki mogą również odgrywać rolę w rozwoju torbieli nerek, jeśli narażenie nastąpi podczas krytycznego etapu rozwoju płodowego

Molekularne podstawy torbieli nerek

Na poziomie molekularnym, patogeneza torbieli nerek jest złożona i zależy od rodzaju torbieli. W przypadku chorób genetycznych, takich jak ADPKD i ARPKD, kluczową rolę odgrywają mutacje genów odpowiedzialnych za kodowanie białek związanych z funkcjonowaniem rzęsek pierwotnych komórek kanalików nerkowych.³⁹⁴⁰

W ADPKD główną rolę odgrywają mutacje w genach PKD1 (zlokalizowany na chromosomie 16p13.3) oraz PKD2 (chromosom 4q22.1), kodujących odpowiednio białka policystynę 1 i policystynę 2. Białka te tworzą kompleks na błonie komórkowej i pełnią funkcje receptorowe oraz kanałów jonowych biorących udział w transporcie wapnia. Zaburzenia funkcji tych białek prowadzą do nieprawidłowości w licznych szlakach sygnałowych, z których kluczowym wydaje się być nieprawidłowość w przekaźniku cAMP.⁴¹⁴²

W ARPKD główną rolę odgrywa mutacja genu PKHD1 (zlokalizowany na chromosomie 6p21.1-p12), kodującego białko fibrocystynę. Rola tego białka w organizmie nie została jeszcze dokładnie wyjaśniona, ale wiadomo, że jest związane z funkcjonowaniem rzęsek pierwotnych.⁴³⁴⁴

Odkrycia dotyczące genetycznych podstaw chorób torbielowatych nerek sugerują, że wiele różnych genów jest zaangażowanych w proces tworzenia torbieli, ale istnieje wspólny mechanizm patologiczny związany z dysfunkcją rzęsek pierwotnych.⁴⁵

Podsumowanie etiologii torbieli nerek

Torbiele nerek mają złożoną i wieloczynnikową etiologię, która obejmuje zarówno czynniki genetyczne, jak i nabyte. W większości przypadków prostych torbieli nerek dokładna przyczyna pozostaje nieznana, ale prawdopodobnie związana jest z procesem starzenia się, osłabieniem tkanki nerkowej i zaburzeniami w funkcjonowaniu kanalików nerkowych.⁴⁶⁴⁷

W przypadku chorób torbielowatych nerek o podłożu genetycznym, kluczową rolę odgrywają mutacje genów kodujących białka związane z funkcjonowaniem rzęsek pierwotnych komórek kanalików nerkowych. Zaburzenia te prowadzą do nieprawidłowości w szlakach sygnałowych komórek, zwiększonej proliferacji komórek i wydzielania płynu do wnętrza torbieli.⁴⁸

Nabyte torbiele nerek mogą rozwinąć się w wyniku przewlekłej choroby nerek, dializoterapii, urazów, infekcji lub jako część innych chorób systemowych. Czynniki ryzyka obejmują wiek, płeć męską, nadciśnienie tętnicze, palenie tytoniu oraz predyspozycje genetyczne.⁴⁹⁵⁰

Zrozumienie etiologii torbieli nerek jest kluczowe dla właściwej diagnostyki, leczenia oraz opracowania nowych strategii terapeutycznych, szczególnie w przypadku genetycznie uwarunkowanych chorób torbielowatych nerek, które mogą prowadzić do przewlekłej niewydolności nerek.⁵¹

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Materiały źródłowe

#1 Kidney cysts | Altru Health System
https://www.altru.org/health-library/conditions/kidney-cysts
It’s not clear what causes simple kidney cysts. […] One theory suggests that kidney cysts develop when the surface layer of the kidney weakens and forms a pouch. The pouch then fills with fluid, detaches and develops into a cyst.
#2 Simple Renal Cyst – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK499900/
Simple renal cysts are acquired, not inherited. The exact cause is unknown. Risk factors are advancing age and male sex. The presence of simple cysts increases after age 40. […] The exact pathophysiology for renal cysts is unclear. Diverticula on the distal tubule of the nephron may be the starting point for cyst formation. The basal membrane involution with age, combined with a degree of urinary obstruction, may result in simple cyst formation.
#3 Kidney Cyst: Symptoms, Pain, and Treatments
https://www.webmd.com/a-to-z-guides/kidney-cyst-causes-symptoms-treatments
There are different kinds of kidney cysts. A simple kidney cyst is a round pouch of smooth, thin-walled tissue or a closed pocket that is usually filled with fluid. One or more may form within the kidneys. Simple cysts are the most common type of kidney cyst, and they most often are benign. […] Doctors dont fully understand the cause of simple kidney cysts, but they dont appear to be inherited. Men are more likely to get them than women. And almost half of all people aged 50 or older have one or more simple cysts in their kidneys. The size of these cysts may also increase with age and may double over 10 years. […] PKD is caused by abnormal changes in genes, called mutations. […] Doctors arent sure what causes ACKD.
#4 Simple Renal Cyst – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK499900/
Simple renal cysts are acquired, not inherited. The exact cause is unknown. Risk factors are advancing age and male sex. The presence of simple cysts increases after age 40. […] The exact pathophysiology for renal cysts is unclear. Diverticula on the distal tubule of the nephron may be the starting point for cyst formation. The basal membrane involution with age, combined with a degree of urinary obstruction, may result in simple cyst formation.
#5 Kidney cysts | Altru Health System
https://www.altru.org/health-library/conditions/kidney-cysts
It’s not clear what causes simple kidney cysts. […] One theory suggests that kidney cysts develop when the surface layer of the kidney weakens and forms a pouch. The pouch then fills with fluid, detaches and develops into a cyst.
#6 Kidney Cyst: Symptoms, Causes, Treatment and More
https://www.healthline.com/health/kidney-cyst
Cysts are usually harmless. Because they often dont cause symptoms, you might not even realize you have them until you get an imaging scan for another reason. […] Doctors dont know exactly what causes simple kidney cysts. They do have a few possible explanations. For example, each kidney has about a million tiny tubules that collect urine. Cysts may start to grow when a tube becomes blocked, swells up, and fills with fluid. Another possibility is that cysts start when pouches called diverticula form in weakened areas of the tubules and fill with fluid. […] PKD is an inherited condition, meaning its caused by changes to genes that are passed down through families.
#7 Simple Renal Cyst – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK499900/
Simple renal cysts are acquired, not inherited. The exact cause is unknown. Risk factors are advancing age and male sex. The presence of simple cysts increases after age 40. […] The exact pathophysiology for renal cysts is unclear. Diverticula on the distal tubule of the nephron may be the starting point for cyst formation. The basal membrane involution with age, combined with a degree of urinary obstruction, may result in simple cyst formation.
#8 Renal Cystic Disease – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK554504/
Noninherited RCDs can be due to developmental renal dysplasia, de novo genetic mutations, or acquired cysts from systemic disease. However, due to improved genetic analysis techniques, some etiologies in this group previously thought to be noninherited, eg, multicystic dysplastic kidney, have been found to have a genetic component likely. Most of these etiologies are considered to be largely a result of renal developmental malformations. […] Simple renal cysts: Cysts that typically develop after the age of 20 years and then increase in frequency as patients age. These are the most common RCDs, and autopsy studies show that 50% of those older than 50 years will have at least one renal cyst. The etiology is thought to be hypertrophy from localized ischemia or obstruction. […] Medullary sponge kidney: This is characterized by cystic dilatation of the papillary collecting ducts, medullary cysts, nephrocalcinosis, and nephrolithiasis. Traditionally, this etiology has been classified as a spontaneous malformation; however, it may also have a genetic component, considering that it is associated with other developmental disorders and shows familial clustering.
#9 Kidney Cyst: Symptoms, Pain, and Treatments
https://www.webmd.com/a-to-z-guides/kidney-cyst-causes-symptoms-treatments
There are different kinds of kidney cysts. A simple kidney cyst is a round pouch of smooth, thin-walled tissue or a closed pocket that is usually filled with fluid. One or more may form within the kidneys. Simple cysts are the most common type of kidney cyst, and they most often are benign. […] Doctors dont fully understand the cause of simple kidney cysts, but they dont appear to be inherited. Men are more likely to get them than women. And almost half of all people aged 50 or older have one or more simple cysts in their kidneys. The size of these cysts may also increase with age and may double over 10 years. […] PKD is caused by abnormal changes in genes, called mutations. […] Doctors arent sure what causes ACKD.
#10 Simple Renal Cyst – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK499900/
Simple renal cysts are acquired, not inherited. The exact cause is unknown. Risk factors are advancing age and male sex. The presence of simple cysts increases after age 40. […] The exact pathophysiology for renal cysts is unclear. Diverticula on the distal tubule of the nephron may be the starting point for cyst formation. The basal membrane involution with age, combined with a degree of urinary obstruction, may result in simple cyst formation.
#11 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#12 Renal Cystic Disease – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK554504/
Renal cystic disease is a term that refers to the group of pathologic conditions associated with the development of renal cysts. These conditions may present in children and adults with extrarenal symptoms and have genetic or non-inherited etiologies. […] RCD comprises various underlying conditions and is often classified as inherited or non-inherited (developmental dysplasia, de novo mutations, or systemic disorders). Advancements in research have led to a better understanding of the pathophysiologic causes of RCD. As a result, certain conditions can be categorized as dysplasias (encompassing abnormalities in renal structure) or ciliopathies (which involve mutations affecting renal tubular cilia). RCD usually has genetic etiologies; aside from ADPKD, most types first present in children or teenagers. The RCD most often observed in adults is ADPKD.
#13 Polycystic kidney disease – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820
Polycystic kidney disease (PKD) is a condition in which clusters of cysts grow in the body, mainly in the kidneys. Over time, the cysts may cause the kidneys to get bigger and stop working. PKD is most often passed through families. This is called an inherited condition. […] Gene changes cause polycystic kidney disease. Most often, the condition runs in families. Sometimes, a gene change happens on its own in a child. This is known as a spontaneous gene change. Then neither parent has a copy of the changed gene. […] There are two main types of polycystic kidney disease. They’re caused by different gene changes. The two types of PKD are: Autosomal dominant polycystic kidney disease (ADPKD). This is the most common type of ongoing kidney disease that’s passed through families, also called inherited. Symptoms of ADPKD often start between the ages of 30 and 40.
#14
https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/
ADPKD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow. […] Faults in 1 of 2 different genes are known to cause ADPKD. […] The affected genes are: PKD1, which accounts for around 78% of cases; PKD2, which accounts for around 15% of cases. […] In around 1 in 10 cases of ADPKD, the mutation develops for the first time in the affected person. It’s not known what causes this to happen.
#15 Polycystic kidney disease – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820
Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The symptoms often appear soon after birth. Sometimes, symptoms don’t appear until later in childhood or during the teen years. […] The biggest risk factor for getting polycystic kidney disease is getting the gene changes that cause the disease from one or both parents.
#16 Renal cysts and cystic kidneys – USZ
https://www.usz.ch/en/disease/renal-cysts-and-cystic-kidneys/
The cause of autosomal recessive polycystic kidney disease (ARPKD) lies in another gene: the polycystic kidney and hepatic disease 1 gene (PKDH1). It is responsible for the formation of the protein fibrocystin. Its task in the body has also not yet been precisely clarified. In autosomal recessive inheritance, the mutated gene must be present on both the maternal and paternal chromosomes. Statistically, the probability of contracting the disease is 25 percent.
#17 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#18 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#19 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#20 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#21 What are cysts? – Polycystic kidney disease | PKD treatment research | PKD Foundation
https://pkdcure.org/what-is-adpkd/what-are-cysts/
Mutations of the PKD1 or PKD2 gene reduce the normal level of polycystins, which regulate many important tubular cell functions. […] Abnormalities in multiple cell signaling pathways have been found in PKD, but one that seems to be central to the disease is a defect in a signaling molecule called cyclic AMP (cAMP) within the cells that form tubules in the kidneys and other target organs. […] These abnormalities in turn can lead to cyst formation through at least two important mechanisms: […] Cell proliferation (growth) – The cells lining a cyst reproduce themselves more than normal kidney cells do, making them grow in size. […] Fluid secretion – The lining cells secrete fluid into the empty sac which expands the cyst.
#22 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#23 Kidney Cysts: Causes, Symptoms, Treatment & Prevention
https://my.clevelandclinic.org/health/diseases/14884-kidney-cysts
Kidney cysts occur when the tube of a nephron begins to swell and fill with fluid. Researchers dont know what causes this, but they do know that simple cysts arent inherited (they dont happen because of conditions you get from your biological parents). They believe an injury or microscopic blockages in the tubules may lead to the development of simple kidney cysts. […] Some medical conditions can cause kidney cysts. These include: Polycystic kidney disease. Chronic kidney disease (CKD). Von Hippel-Lindau disease. Tuberous sclerosis complex (TSC).
#24 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#25 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#26 Simple and complex kidney cysts in adults – UpToDate
https://www.uptodate.com/contents/simple-and-complex-kidney-cysts-in-adults
Kidney cysts result from genetic or nongenetic processes and occur in a variety of diseases in adults and children. […] The most common causes of radiologically evident kidney cysts in adults are simple kidney cysts, which will be discussed in this topic review. […] Other unusual causes of kidney cysts in adults are von Hippel-Lindau disease, tuberous sclerosis complex, Fabry disease, and nephronophthisis. […] Kidney cysts are categorized as simple or complex. Simple kidney cysts are commonly observed in normal kidneys, with an increasing incidence as individuals age. […] They are benign, asymptomatic lesions that rarely require treatment. By contrast, complex cysts may require follow-up imaging, biopsy, or surgical excision for diagnosis and management.
#27 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
One third of people older than 50 years develop cysts in their kidneys. Although most are simple cysts, renal cystic disease has multiple etiologies. Broad categories of cystic disease include the following: Developmental Multicystic dysplastic kidney (MCDK); Genetic Autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis (JNPHP), medullary cystic kidney disease (MCKD), glomerulocystic kidney disease (GCKD); Cysts associated with systemic disease Von Hippel-Lindau syndrome (VHLS), tuberous sclerosis (TS); Acquired Simple cysts, acquired cystic renal disease, medullary sponge kidney (MSK); Malignancy Cystic renal cell carcinoma (RCC); accounts for 5% of all RCCs. […] The etiology of renal cysts includes the following: Developmental cystic renal disease; Inherited cystic renal disease; Systemic disease with associated renal cysts; Acquired cystic renal disease; Unilateral renal cystic disease.
#28 Acquired Cystic Kidney Disease: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/246888-overview
Cystic kidney disease is a term that represents a wide spectrum of diseases that may be hereditary, developmental, or acquired; these diseases share the feature of renal cysts. […] The causes of multiple renal cysts include the following: Autosomal dominant polycystic kidney disease, Autosomal recessive polycystic kidney disease, Multicystic renal dysplasia, Acquired renal cystic disease, Simple renal cysts, Medullary sponge kidney, Familial juvenile nephronophthisis, Medullary cystic disease, Von Hippel-Lindau syndrome, Tuberous sclerosis complex, Glomerulocystic kidney disease. […] The severity and the duration of azotemia appear to be the critical factors in determining the extent of cyst development.
#29 Acquired Kidney Cysts – Kidney and Urinary Tract Disorders – Merck Manual Consumer Version
https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/cystic-kidney-disorders/acquired-kidney-cysts
One or more fluid-filled sacs (cysts) sometimes develop in the kidneys without causing serious kidney problems. […] The cause of single cysts and usually of multiple cysts is unknown. However, multiple cysts are more common in people with chronic kidney disease, especially people undergoing dialysis for many years. More that 50% of people who undergo dialysis for more than 10 years develop cysts. […] People with acquired cysts, particularly people with a transplanted kidney or who have been treated with dialysis for several years, are at risk of kidney cancer.
#30 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#31 Renal Cystic Disease – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK554504/
Noninherited RCDs can be due to developmental renal dysplasia, de novo genetic mutations, or acquired cysts from systemic disease. However, due to improved genetic analysis techniques, some etiologies in this group previously thought to be noninherited, eg, multicystic dysplastic kidney, have been found to have a genetic component likely. Most of these etiologies are considered to be largely a result of renal developmental malformations. […] Simple renal cysts: Cysts that typically develop after the age of 20 years and then increase in frequency as patients age. These are the most common RCDs, and autopsy studies show that 50% of those older than 50 years will have at least one renal cyst. The etiology is thought to be hypertrophy from localized ischemia or obstruction. […] Medullary sponge kidney: This is characterized by cystic dilatation of the papillary collecting ducts, medullary cysts, nephrocalcinosis, and nephrolithiasis. Traditionally, this etiology has been classified as a spontaneous malformation; however, it may also have a genetic component, considering that it is associated with other developmental disorders and shows familial clustering.
#32 Kidney Cysts â Symptoms, Causes & Treatment
https://www.careinsurance.com/blog/health-insurance-articles/everything-you-need-to-know-about-kidney-cysts
Kidney cysts usually develop as a result of ageing. As people grow older, the likelihood of developing these fluid-filled sacs increases. Some common kidney cyst causes are mentioned below: […] Genetic factors: Polycystic kidney disease (PKD) can lead to multiple cysts forming in both kidneys. […] Acquired cysts: These can occur without any underlying disease and are often linked to ageing or dialysis. […] Infection or injury: In rare cases, an infection or injury to the kidneys may cause cyst formation.
#33 Renal Cyst: Causes, Diagnosis, and Treatment
https://dreminozbek.com/en/renal-cyst-causes-diagnosis-and-treatment/
Past kidney injuries or infections can sometimes lead to the formation of cysts. […] People with certain chronic kidney diseases are more prone to developing cysts. […] Long-term dialysis can be associated with the development of acquired cystic kidney disease (ACKD), which involves the formation of multiple cysts in the kidneys.
#34 How Do I Get Rid of a Cyst on My Kidney?
https://www.medicinenet.com/how_do_i_get_rid_of_a_cyst_on_my_kidney/article.htm
Simple kidney cysts are more likely to happen as you get older, and men are twice as likely to develop them than women. People who smoke or have high blood pressure also have a greater chance of developing kidney cysts. Those with a genetic predisposition or who have a medical condition, such as polycystic kidney disease, are more susceptible as well.
#35 Kidney Cysts: Types, Symptoms, Causes and Treatment
https://www.carehospitals.com/diseases-conditions/kidney-cysts
Several factors can increase the possibility of developing kidney cysts, including: Age: The risk of developing simple kidney cysts increases with age. Gender: Kidney cysts show male predilection. Smoking: Smoking increases the risk of developing kidney cysts. Obesity: Being overweight may increase the susceptibility of a person to developing kidney cysts. Hypertension: High blood pressure is correlated to a higher incidence of kidney cysts. Medical Conditions: Some medical conditions, such as polycystic kidney disease (PKD), von Hippel-Lindau disease (VHL), or Tuberous sclerosis complex (TSC), can cause kidney cysts.
#36 Polycystic liver disease
https://pkdcharity.org.uk/adpkd/symptoms/polycystic-liver-disease
In people with ADPKD, experts think liver cysts are probably caused by the same genes that cause kidney cysts. […] The hormone oestrogen appears to increase the development and growth of liver cysts. This hormone is found in higher levels in women than men. Women who have been pregnant are likely to develop liver cysts earlier and have worse liver cysts than women who have never been pregnant. Women who have used oestrogen-containing contraception or hormone replacement therapy (for the menopause) might get liver cysts sooner or worse cysts.
#37 Partners in Care | MCDK is treated in the Comprehensive Fetal Center.
https://partnersincare.health/conditions/multicystic-dysplastic-kidney
Although rare, the occurrence of a multicystic dysplastic kidney can run in families due to a genetic trait; however, the majority of cases occur as an isolated event. […] Some studies suggest certain viral infections and some drugs may also play a role in the development of a multicystic dysplastic kidney if exposure occurs during a critical stage of fetal development.
#38 Exploring Kidney Cysts: Causes, Complications, and Treatment Options
https://www.linkedin.com/pulse/exploring-kidney-cysts-causes-complications-treatment-options-lm5rc
Kidney cysts are fluid-filled sacs that can form on or inside the kidneys. They are relatively common and are often found in people over the age of 50. […] Causes of Kidney Cysts: Aging: The likelihood of developing simple kidney cysts increases with age. They are common in people over 50 and are often considered a normal part of the aging process. […] Polycystic Kidney Disease (PKD): This is a genetic disorder characterized by the growth of numerous cysts in the kidneys. PKD is inherited in an autosomal dominant or autosomal recessive pattern. […] Blocked Tubules: Cysts may form when the tiny tubules in the kidneys, which filter blood and produce urine, become blocked or obstructed. This can lead to the formation of fluid-filled sacs. […] Long-term Dialysis: People on long-term dialysis for kidney failure are at a higher risk of developing acquired cystic kidney disease (ACKD), where multiple cysts form in the kidneys. […] Parasitic Infections: Rarely, parasitic infections like echinococcosis (hydatid disease) can lead to the formation of cysts in the kidneys.
#39 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#40 Study finds four genes linked to cystic diseases of the liver and kidney | Yale News
https://news.yale.edu/2017/04/05/study-finds-four-genes-linked-cystic-diseases-liver-and-kidney
Yale researchers are studying kidney and liver diseases to determine which genes are involved in the formation of cysts. […] A common and often devastating genetic disease known as polycystic kidney disease (PKD) results in cysts in both the kidney and liver. […] It is caused by mutations in the genes PKD1 or PKD2. […] The more rare juvenile form is caused by mutations inherited from both parents in a gene called PKHD1. […] Nonetheless cysts form due to a dysregulation of the same disease process as those in the kidney, the details of which are an important area of investigation. […] This discovery demonstrated that many different genes are involved in the process of cyst formation. […] Interestingly, one of the identified genes was PKHD1, suggesting that a subset of carriers of PKHD1 mutations (parents of children with the juvenile form of PKD) can present with PCLD. […] This finding supports a common mechanism of disease between both the adult and juvenile PKD and PCLD. […] It could be hypothesized now that blocking a single pathway could cure all of these diseases.
#41 What are cysts? – Polycystic kidney disease | PKD treatment research | PKD Foundation
https://pkdcure.org/what-is-adpkd/what-are-cysts/
Mutations of the PKD1 or PKD2 gene reduce the normal level of polycystins, which regulate many important tubular cell functions. […] Abnormalities in multiple cell signaling pathways have been found in PKD, but one that seems to be central to the disease is a defect in a signaling molecule called cyclic AMP (cAMP) within the cells that form tubules in the kidneys and other target organs. […] These abnormalities in turn can lead to cyst formation through at least two important mechanisms: […] Cell proliferation (growth) – The cells lining a cyst reproduce themselves more than normal kidney cells do, making them grow in size. […] Fluid secretion – The lining cells secrete fluid into the empty sac which expands the cyst.
#42 Polycystic kidney disease: MedlinePlus GeneticsLock
https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. […] Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. […] Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. […] Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. […] Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease.
#43 Cystic Diseases of the Kidney: Practice Essentials, Pathophysiology, Etiology
https://emedicine.medscape.com/article/453831-overview
The exact mechanism of genetically induced cyst formation has yet to be fully defined. Similarities between cystic diseases, however, reveal common pathologic pathways. The vast majority of mutations affect the primary cilia of the tubular epithelium, indicating that disruption of this structure relates to disease development. […] The genetic defect is located on chromosome 6p21.1-p12. […] Tuberous sclerosis (TS) is inherited in autosomal dominant fashion, with variable penetrance. Approximately 60-70% of cases are due to sporadic mutations. Genetic markers have been identified at chromosome band 9q34 (TSC1, which encodes hamartin) and chromosome band 16p13 (TSC2, which encodes tuberin). […] The exact cause of cyst formation has not been identified. One theory suggests that the development of cysts in acquired renal cystic disease (ARCD) is secondary to obstruction of the tubules by fibrosis or oxalate crystals. Another hypothesis invokes the accumulation of growth factors and stimulatory chemicals (uremia), including EGF, which leads to the development of cysts.
#44 Renal cysts and cystic kidneys – USZ
https://www.usz.ch/en/disease/renal-cysts-and-cystic-kidneys/
The cause of autosomal recessive polycystic kidney disease (ARPKD) lies in another gene: the polycystic kidney and hepatic disease 1 gene (PKDH1). It is responsible for the formation of the protein fibrocystin. Its task in the body has also not yet been precisely clarified. In autosomal recessive inheritance, the mutated gene must be present on both the maternal and paternal chromosomes. Statistically, the probability of contracting the disease is 25 percent.
#45 Study finds four genes linked to cystic diseases of the liver and kidney | Yale News
https://news.yale.edu/2017/04/05/study-finds-four-genes-linked-cystic-diseases-liver-and-kidney
Yale researchers are studying kidney and liver diseases to determine which genes are involved in the formation of cysts. […] A common and often devastating genetic disease known as polycystic kidney disease (PKD) results in cysts in both the kidney and liver. […] It is caused by mutations in the genes PKD1 or PKD2. […] The more rare juvenile form is caused by mutations inherited from both parents in a gene called PKHD1. […] Nonetheless cysts form due to a dysregulation of the same disease process as those in the kidney, the details of which are an important area of investigation. […] This discovery demonstrated that many different genes are involved in the process of cyst formation. […] Interestingly, one of the identified genes was PKHD1, suggesting that a subset of carriers of PKHD1 mutations (parents of children with the juvenile form of PKD) can present with PCLD. […] This finding supports a common mechanism of disease between both the adult and juvenile PKD and PCLD. […] It could be hypothesized now that blocking a single pathway could cure all of these diseases.
#46 Kidney Cysts: Causes, Symptoms, Treatment & Prevention
https://my.clevelandclinic.org/health/diseases/14884-kidney-cysts
Kidney cysts occur when the tube of a nephron begins to swell and fill with fluid. Researchers dont know what causes this, but they do know that simple cysts arent inherited (they dont happen because of conditions you get from your biological parents). They believe an injury or microscopic blockages in the tubules may lead to the development of simple kidney cysts. […] Some medical conditions can cause kidney cysts. These include: Polycystic kidney disease. Chronic kidney disease (CKD). Von Hippel-Lindau disease. Tuberous sclerosis complex (TSC).
#47 Simple Renal Cyst – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK499900/
Simple renal cysts are acquired, not inherited. The exact cause is unknown. Risk factors are advancing age and male sex. The presence of simple cysts increases after age 40. […] The exact pathophysiology for renal cysts is unclear. Diverticula on the distal tubule of the nephron may be the starting point for cyst formation. The basal membrane involution with age, combined with a degree of urinary obstruction, may result in simple cyst formation.
#48 What are cysts? – Polycystic kidney disease | PKD treatment research | PKD Foundation
https://pkdcure.org/what-is-adpkd/what-are-cysts/
Mutations of the PKD1 or PKD2 gene reduce the normal level of polycystins, which regulate many important tubular cell functions. […] Abnormalities in multiple cell signaling pathways have been found in PKD, but one that seems to be central to the disease is a defect in a signaling molecule called cyclic AMP (cAMP) within the cells that form tubules in the kidneys and other target organs. […] These abnormalities in turn can lead to cyst formation through at least two important mechanisms: […] Cell proliferation (growth) – The cells lining a cyst reproduce themselves more than normal kidney cells do, making them grow in size. […] Fluid secretion – The lining cells secrete fluid into the empty sac which expands the cyst.
#49 How Do I Get Rid of a Cyst on My Kidney?
https://www.medicinenet.com/how_do_i_get_rid_of_a_cyst_on_my_kidney/article.htm
Simple kidney cysts are more likely to happen as you get older, and men are twice as likely to develop them than women. People who smoke or have high blood pressure also have a greater chance of developing kidney cysts. Those with a genetic predisposition or who have a medical condition, such as polycystic kidney disease, are more susceptible as well.
#50 Kidney Cysts: Types, Symptoms, Causes and Treatment
https://www.carehospitals.com/diseases-conditions/kidney-cysts
Several factors can increase the possibility of developing kidney cysts, including: Age: The risk of developing simple kidney cysts increases with age. Gender: Kidney cysts show male predilection. Smoking: Smoking increases the risk of developing kidney cysts. Obesity: Being overweight may increase the susceptibility of a person to developing kidney cysts. Hypertension: High blood pressure is correlated to a higher incidence of kidney cysts. Medical Conditions: Some medical conditions, such as polycystic kidney disease (PKD), von Hippel-Lindau disease (VHL), or Tuberous sclerosis complex (TSC), can cause kidney cysts.
#51 Study finds four genes linked to cystic diseases of the liver and kidney | Yale News
https://news.yale.edu/2017/04/05/study-finds-four-genes-linked-cystic-diseases-liver-and-kidney
Yale researchers are studying kidney and liver diseases to determine which genes are involved in the formation of cysts. […] A common and often devastating genetic disease known as polycystic kidney disease (PKD) results in cysts in both the kidney and liver. […] It is caused by mutations in the genes PKD1 or PKD2. […] The more rare juvenile form is caused by mutations inherited from both parents in a gene called PKHD1. […] Nonetheless cysts form due to a dysregulation of the same disease process as those in the kidney, the details of which are an important area of investigation. […] This discovery demonstrated that many different genes are involved in the process of cyst formation. […] Interestingly, one of the identified genes was PKHD1, suggesting that a subset of carriers of PKHD1 mutations (parents of children with the juvenile form of PKD) can present with PCLD. […] This finding supports a common mechanism of disease between both the adult and juvenile PKD and PCLD. […] It could be hypothesized now that blocking a single pathway could cure all of these diseases.