Zespół nerczycowy
Etiologia i przyczyny

Zespół nerczycowy (ZN) u dzieci charakteryzuje się masywnym białkomoczem (>40 mg/m²/h), hipoalbuminemią (<30 g/L), obrzękami oraz powikłaniami wynikającymi z uszkodzenia bariery filtracyjnej kłębuszków nerkowych. Etiologia ZN jest zróżnicowana i obejmuje postaci pierwotne (idiopatyczne), wtórne oraz wrodzone/genetyczne. Pierwotne ZN, stanowiące około 90% przypadków u dzieci poniżej 10 roku życia, najczęściej związane jest z minimalną zmianą chorobową (MCD, 80-90% u dzieci <5 lat), ogniskowym segmentowym stwardnieniem kłębuszków (FSGS) oraz rzadziej nefropatią błoniastą i błoniasto-rozplemowym zapaleniem kłębuszków (MPGN). Wtórne ZN wiąże się z chorobami autoimmunologicznymi (np. toczeń rumieniowaty układowy), infekcjami (HBV, HCV, HIV), chorobami metabolicznymi (cukrzyca, amyloidoza), nowotworami oraz ekspozycją na leki i toksyny. Wrodzony ZN manifestuje się w pierwszych 3 miesiącach życia i jest najczęściej spowodowany mutacjami genów NPHS1, NPHS2 oraz innymi defektami genetycznymi wpływającymi na strukturę podocytów i błony filtracyjnej kłębuszka.

Etiologia zespołu nerczycowego u dzieci

Zespół nerczycowy (ZN) to zaburzenie kliniczne charakteryzujące się masywnym białkomoczem (powyżej 40 mg/m² na godzinę), hipoalbuminemią (poniżej 30 g/L), obrzękami oraz różnymi powikłaniami. Jest spowodowany zwiększoną przepuszczalnością przez uszkodzoną błonę podstawną w kłębuszkach nerkowych. ZN może występować jako choroba pierwotna, specyficzna dla nerek, lub wtórna do infekcji wrodzonych, cukrzycy, tocznia rumieniowatego układowego, nowotworów lub stosowania niektórych leków.12

Pierwotny zespół nerczycowy

Pierwotny (idiopatyczny) zespół nerczycowy stanowi około 90% przypadków u dzieci poniżej 10 roku życia i 50% przypadków powyżej 10 roku życia.23 Główne przyczyny pierwotnego ZN obejmują choroby wewnątrznerkowe, takie jak:14

  • Zmiany minimalne (minimal change disease, MCD) – najczęstsza przyczyna ZN u dzieci, odpowiadająca za około 80-90% przypadków u dzieci poniżej 5 roku życia. Charakteryzuje się niewielkimi lub niewidocznymi zmianami w mikroskopie świetlnym, ale widocznymi w mikroskopie elektronowym.567
  • Ogniskowe segmentowe stwardnienie kłębuszków nerkowych (FSGS) – druga najczęstsza przyczyna ZN u dzieci, występująca częściej u starszych dzieci i młodzieży.89
  • Błoniasto-rozplemowe kłębuszkowe zapalenie nerek (MPGN) – rzadka przyczyna ZN u dzieci.89
  • Nefropatia błoniasta (MGN) – rzadziej występująca u dzieci niż u dorosłych.10
  • Nefropatia IgA – może również powodować ZN u dzieci.10

Wtórny zespół nerczycowy

Wtórny zespół nerczycowy jest spowodowany chorobami ogólnoustrojowymi lub czynnikami zewnętrznymi. Główne przyczyny obejmują:110

  • Choroby autoimmunologiczne i zapalne:
    • Toczeń rumieniowaty układowy (SLE)1112
    • Zapalenie naczyń IgA (dawniej plamica Henocha-Schönleina)1312
    • Ziarniniakowatość z zapaleniem naczyń i inne zapalenia naczyń10
  • Choroby infekcyjne:
    • Wirusowe zapalenie wątroby typu B i C1112
    • Zakażenie HIV1114
    • Kiła wrodzona1510
    • Toksoplazmoza1310
    • Zakażenie cytomegalowirusem10
    • Malaria1016
  • Choroby metaboliczne i endokrynologiczne:
  • Nowotwory:
  • Leki i toksyny:
    • Niesteroidowe leki przeciwzapalne (NLPZ)1920
    • Penicylamina1018
    • Złoto1018
    • Lit18
    • Heroina14
    • Inhibitory konwertazy angiotensyny20
  • Inne:
    • Otyłość916
    • Niedokrwistość sierpowatokrwinkowa1118
    • Reakcje alergiczne na pokarmy20
    • Ukąszenia owadów2016
    • Szczepienia20

Wrodzony zespół nerczycowy

Wrodzony zespół nerczycowy (congenital nephrotic syndrome, CNS) pojawia się w pierwszych 3 miesiącach życia i jest zazwyczaj spowodowany mutacjami genetycznymi.1321 Najważniejsze przyczyny to:2223

  • Mutacje genetyczne:
    • Mutacje genu NPHS1 kodującego nefrynę (fiński typ wrodzonego zespołu nerczycowego)2315
    • Mutacje genu NPHS2 kodującego podocynę2315
    • Inne mutacje genów związanych z podocytami22
  • Wrodzone infekcje:
    • Kiła wrodzona15
    • Toksoplazmoza wrodzona15
    • Zakażenie cytomegalowirusem15

Zespoły genetyczne związane z zespołem nerczycowym

Istnieje wiele zespołów genetycznych, które mogą powodować ZN u dzieci:1024

  • Zespół Denys-Drasha (mutacja genu WT1)10
  • Zespół Frasiera (mutacja genu WT1)1024
  • Rozlane stwardnienie mezangialne (mutacje genów WT1, PLCE1)10
  • Rodzinne FSGS – autosomalne recesywne (mutacja genu NPHS2, podocyna) lub autosomalne dominujące (mutacje genów ACTN4, TRPC6)10
  • Zespół paznokieć-rzepka (mutacja genu LMX1B)1024
  • Zespół Piersona (mutacja genu LAMB2)1024
  • Zespół Schimkego (immunoossealna dysplazja, mutacja genu SMARCAL1)1024

Czynniki wyzwalające zespół nerczycowy

Zespół nerczycowy może być wyzwalany przez różne czynniki, które mogą inicjować początek choroby lub powodować nawroty. Do najważniejszych czynników wyzwalających należą:125

  • Infekcje:
    • Zakażenia górnych dróg oddechowych – są czynnikiem wyzwalającym w niemal połowie przypadków125
    • Infekcje wirusowe – mogą wyzwalać zarówno początek choroby, jak i nawroty2625
  • Reakcje alergiczne – odpowiadają za około jedną trzecią przypadków1
  • Ukąszenia owadów120
  • Szczepienia120
  • Nadmierne używanie leków dostępnych bez recepty, takich jak ibuprofen i paracetamol19

Patomechanizm zespołu nerczycowego

Mechanizmy uszkodzenia kłębuszków nerkowych

Zespół nerczycowy występuje, gdy kłębuszki nerkowe są uszkodzone i nie mogą prawidłowo filtrować krwi. Główne mechanizmy uszkodzenia obejmują:2712

  • Uszkodzenie podocytów – podocyty są kluczowymi komórkami w barierze filtracyjnej kłębuszka, a ich uszkodzenie prowadzi do zwiększonej przepuszczalności dla białek22
  • Zaburzenia błony szczelinowej (slit diaphragm) – struktura ta jest kluczowa dla prawidłowej filtracji, a jej nieprawidłowości powodują przeciek białka23
  • Mechanizmy immunologiczne – układ odpornościowy może zakłócać działanie kłębuszków12
  • Osadzanie kompleksów immunologicznych – może powodować uszkodzenie kłębuszka4

W przypadku nefropatii błoniastej, proponowane mechanizmy obejmują:4

  • Osadzanie kompleksów immunologicznych z krążenia
  • Tworzenie kompleksów immunologicznych in situ poprzez reakcję krążących autoprzeciwciał z antygenem rodzimym
  • Tworzenie kompleksów immunologicznych in situ z antygenem zewnętrznym, który wiąże się z podocytami lub błoną podstawną kłębuszka

Patofizjologia zespołu nerczycowego

W zespole nerczycowym, w wyniku uszkodzenia bariery filtracyjnej kłębuszków, dochodzi do następujących zmian:282

  • Zwiększona przepuszczalność kłębuszków – pozwala białkom, zwłaszcza albuminie, na przedostawanie się do moczu27
  • Masywny białkomocz – prowadzi do utraty białek z organizmu28
  • Hipoalbuminemia – niski poziom albumin we krwi w wyniku ich utraty przez nerki28
  • Obrzęki – spowodowane zmniejszonym ciśnieniem onkotycznym krwi z powodu hipoalbuminemii28
  • Hiperlipidemia – zwiększony poziom lipidów we krwi jako efekt wtórny do utraty białek1

Różnice w etiologii zespołu nerczycowego w zależności od wieku

Przyczyny zespołu nerczycowego różnią się w zależności od wieku pacjenta:1314

Grupa wiekowa Główne przyczyny Charakterystyka
Noworodki i niemowlęta <3 miesiąca życia Wrodzony zespół nerczycowy (mutacje genetyczne, infekcje wrodzone) Występowanie objawów w pierwszych dniach/tygodniach życia, gorsze rokowanie
Niemowlęta i małe dzieci (3 mies. – 2 lata) Głównie minimal change disease, rzadziej przyczyny genetyczne Wysoki odsetek odpowiedzi na steroidy
Dzieci 2-9 lat Minimal change disease (80-90% przypadków) Najczęstsza grupa wiekowa ZN, dobra odpowiedź na steroidy
Dzieci starsze i nastolatki (>10 lat) MCD (mniej częsta niż u młodszych dzieci), FSGS, wtórne przyczyny Więcej przypadków wtórnych i opornych na steroidy

U dzieci z wiekiem zmniejsza się prawdopodobieństwo genetycznej przyczyny ZN – od 66% w przypadku wrodzonego ZN do 15-16% u dzieci w wieku szkolnym i nastolatków.22

Epidemiologia zespołu nerczycowego u dzieci

Zespół nerczycowy w populacji dziecięcej występuje stosunkowo rzadko:2930

  • Częstość występowania wynosi około 1-2 na 100 000 dzieci rocznie30
  • Szczyt zachorowań przypada między 2 a 6 rokiem życia31
  • Choroba występuje częściej u chłopców niż u dziewcząt2931
  • W niektórych populacjach etnicznych obserwuje się różnice w częstości występowania poszczególnych typów ZN – np. FSGS jest częstsze u dzieci pochodzenia afrykańskiego132

Rola czynników genetycznych

Badania genetyczne odkryły ponad 50 genów związanych z zespołem nerczycowym u dzieci.22 Mutacje te wpływają na różne elementy bariery filtracyjnej kłębuszka:22

  • Białka błony szczelinowej (slit diaphragm) – np. nefryna, podocyna
  • Białka cytoszkieletu aktynowego podocytów
  • Białka adhezyjne
  • Białka błony podstawnej kłębuszka
  • Czynniki transkrypcyjne jądrowe
  • Białka mitochondrialne
  • Białka szlaków reabsorpcji w kanalikach proksymalnych

Badania genetyczne mogą być szczególnie przydatne w diagnozie dzieci z:2222

  • Wrodzonym zespołem nerczycowym
  • ZN opornym na steroidy
  • ZN występującym w rodzinie
  • ZN w połączeniu z innymi wadami wrodzonymi

Pozytywny wynik testu na niektóre mutacje genetyczne może pomóc klinicystom uniknąć próby leczenia steroidami u pacjentów, którzy prawdopodobnie nie zareagują na taką terapię, oraz określić rokowanie i umożliwić poradnictwo genetyczne dla rodzin.22

Minimalna zmiana chorobowa jako główna przyczyna ZN

Minimalna zmiana chorobowa (minimal change disease, MCD) jest najczęstszą przyczyną ZN u dzieci, odpowiadającą za około 80-90% przypadków.56 Charakterystyka MCD obejmuje:115

  • Nerki wyglądają normalnie lub prawie normalnie pod mikroskopem świetlnym
  • Zmiany są widoczne tylko pod mikroskopem elektronowym
  • Przyczyna nieprawidłowej funkcji nerek zazwyczaj nie może być określona

Choć dokładna przyczyna MCD pozostaje nieznana, proponowane mechanizmy obejmują:197

  • Nieprawidłowości w funkcjonowaniu układu odpornościowego
  • Infekcje jako czynniki wyzwalające
  • Reakcje alergiczne
  • Ekspozycja na niektóre leki

Podsumowanie etiologii ZN u dzieci

Zespół nerczycowy u dzieci może być wynikiem różnorodnych przyczyn, jednak w przeważającej większości przypadków (około 90%) jest to postać idiopatyczna, czyli o nieznanej przyczynie. Główne przyczyny ZN u dzieci można sklasyfikować jako:3334

  • Pierwotne (idiopatyczne) – najczęstsze, związane z chorobami swoistymi dla nerek (MCD, FSGS, nefropatia błoniasta)
  • Wtórne – związane z chorobami ogólnoustrojowymi, infekcjami, lekami lub toksynami
  • Genetyczne/wrodzone – związane z mutacjami genów kodujących białka podocytów i błony filtracyjnej kłębuszka

Zrozumienie etiologii ZN u danego dziecka jest kluczowe dla właściwego podejścia terapeutycznego i określenia rokowania. W ostatnich latach dokonano znacznego postępu w identyfikacji podłoża genetycznego ZN, co może prowadzić do bardziej spersonalizowanego leczenia w przyszłości.35

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  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Nephrotic Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK470444/
    Nephrotic syndrome (NS) is a clinical syndrome defined by massive proteinuria (greater than 40 mg/m^2 per hour) responsible for hypoalbuminemia (less than 30 g/L), with resulting hyperlipidemia, edema, and various complications. It is caused by increased permeability through the damaged basement membrane in the renal glomerulus. It results from an abnormality of glomerular permeability that may be primary with a disease-specific to the kidneys or secondary to congenital infections, diabetes, systemic lupus erythematosus, neoplasia, or certain drug use. […] Common primary causes of nephrotic syndrome are intrinsic kidney diseases, such as membranous nephropathy, minimal-change nephropathy, and focal glomerulosclerosis. Secondary causes may include systemic diseases, such as lupus erythematosus, diabetes mellitus, and amyloidosis. Congenital/hereditary focal glomerulosclerosis could occur because of genetic mutations in podocyte proteins, such as podocin, nephrin, or the cation channel 6 protein. An episode of infectious diseases, particularly the upper respiratory tract, is a triggering factor in almost half of cases, an allergic reaction in a third of cases, and more rarely, an insect bite or vaccination. Nephrotic syndrome can also result from drugs of abuse, including heroin. […] The most common cause in children is minimal change glomerulonephritis. In White adults, nephrotic syndrome is most frequently due to membranous nephropathy, whereas in populations of African ancestry, the most common cause of the nephrotic syndrome is focal segmental glomerulosclerosis.
  • #2 Symptomatic management of nephrotic syndrome in children – UpToDate
    https://www.uptodate.com/contents/symptomatic-management-of-nephrotic-syndrome-in-children
    The nephrotic syndrome (NS) is caused by renal diseases that increase the permeability across the glomerular filtration barrier. It is classically characterized by nephrotic-range proteinuria, hypoalbuminemia, and edema. The first two features are diagnostic. […] Idiopathic NS is the most common form of NS in children, representing more than 90 percent of cases before 10 years of age and 50 percent after 10 years of age. The majority of children with NS will respond to steroid therapy. However, symptomatic treatment is important in the early course of therapy as response to steroid therapy may take several weeks. […] Symptomatic treatment also becomes the mainstay of therapy in children who fail to respond to steroids, especially in those with genetic mutations that cause their NS.
  • #3 Idiopathic Nephrotic Syndrome in Children in Chad: Epidemiology and Clinical Outcomes
    https://www.mdpi.com/2077-0383/12/24/7626
    Nephrotic syndrome (NS) remains the most common presentation of glomerular diseases in children. Moreover, NS is primarily idiopathic, accounting for 90% of cases, with an average onset age between 2 and 10 years. […] Childhood nephrotic syndromes result mostly from two idiopathic diseases: minimal-change nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). […] Even though the cause of idiopathic NS remains unknown, its pathogenesis is thought to involve systemic circulating factors, inherited podocyte structural abnormalities, or immune dysregulation. Genetic risk is mostly described among children with steroid-resistant disease. […] In Chad, childhood idiopathic nephrotic syndrome predominantly affects young males; steroid sensitivity is as high as 95%, and in the long-term, 80% of patients achieve remission with normal renal function.
  • #4 Nephrotic Syndrome: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/244631-overview
    Common primary causes of nephrotic syndrome include kidney diseases such as minimal-change nephropathy, membranous nephropathy, and focal glomerulosclerosis. Secondary causes include systemic diseases such as diabetes mellitus, lupus erythematosus, and amyloidosis. Congenital and hereditary focal glomerulosclerosis may result from mutations of genes that code for podocyte proteins, including nephrin, podocin, or the cation channel 6 protein. […] The proposed mechanisms of membranous nephropathy are as follows: Immune complex deposition from the circulation; In-situ formation of immune complexes through the reaction of circulating autoantibodies to a native antigen; In-situ formation of immune complexes with a non-native (extrinsic) antigen that is bound to the podocytes or glomerular basement membrane. […] Nephrotic syndrome can result from drugs of abuse, such as heroin. […] Nephrotic syndrome has been reported following both COVID-19 infection and vaccination, most commonly related to a collapsing form of focal segmental glomerulosclerosis.
  • #5 Nephrotic syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/nephrotic-syndrome/symptoms-causes/syc-20375608
    Nephrotic syndrome is usually caused by damage to the clusters of tiny blood vessels (glomeruli) of your kidneys. […] Many diseases and conditions can cause glomerular damage and lead to nephrotic syndrome, including: […] Minimal change disease. This is the most common cause of nephrotic syndrome in children. Minimal change disease results in abnormal kidney function, but when the kidney tissue is examined under a microscope, it appears normal or nearly normal. The cause of the abnormal function typically can’t be determined.
  • #6 Nephrotic Syndrome in Children | NeST | Nephrotic Syndrome Trust
    https://nstrust.co.uk/who-we-are/nephrotic-syndrome-in-children
    Nephrotic Syndrome can be caused by any disease that causes inflammation of the glomeruli. Minimal Change Disease (MCD) is the most common cause of NS in children. […] In children 80% of cases of Nephrotic Syndrome are caused by Minimal Change Disease (MCD), which can be successfully treated with steroids. However, there are other causes, such as Membranous Nephropathy, or Focal Segmental Glomerulosclerosis (FSGS), and these diseases often persist even with treatment. […] Treatment for Nephrotic Syndrome depends upon the underlying cause. For example, when Nephrotic Syndrome is caused by a disease, treating that disease usually relieves the kidney symptoms.
  • #7 Nephrotic Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/nephrotic-syndrome.html
    Nephrotic syndrome happens when tiny filters in the kidneys called glomeruli leak too much protein into urine. […] Many things can damage the glomeruli and cause nephrotic syndrome. But in kids it’s usually due to minimal change disease. […] Why kids get minimal change disease isn’t always known. It is believed to be due to an immune system problem. […] Rarely, kids can get other types of nephrotic syndrome due to things like cancer and tumors, taking too many over-the-counter medicines like ibuprofen, and obesity. […] Minimal change disease causes most cases of nephrotic syndrome in kids.
  • #8
    https://www.healthychildren.org/English/health-issues/conditions/genitourinary-tract/Pages/nephrotic-syndrome-in-children.aspx
    Nephrotic syndrome is a kidney condition that leads to swelling and other symptoms. While it can affect people at any age, nephrotic syndrome usually occurs in children between 2 and 9 years of age. […] In children with nephrotic syndrome, tiny filters in the kidneys, called glomeruli, are injured. They let too much protein leak out of the blood and into the urine. […] The most common type in children is called „minimal change disease” (MCD). The cause of MCD is not known. […] Focal segmental glomerulosclerosis (FSGS) is the second most common cause of nephrotic syndrome in children. FSGS most often occurs in older children and adolescents. In some cases, FSGS may be caused by a genetic abnormality. Most often, though the cause is not known. […] Other rare causes of childhood nephrotic syndrome include congenital nephrotic syndrome (occurs in children less than 3 months of age) and membranoproliferative glomerulonephritis (MPGN). Nephrotic syndrome may also be due to disorders such as lupus, infection or obesity.
  • #9 Nephrotic Syndrome in Children | National Kidney Foundation
    https://www.kidney.org/kidney-topics/nephrotic-syndrome-children
    Nephrotic syndrome in kids causes swelling and protein loss in urine. […] Nephrotic syndrome is a kidney condition that leads to swelling and other symptoms. […] In children with nephrotic syndrome, tiny filters in the kidneys, called glomeruli, are injured. They let too much protein leak out of the blood and into the urine. […] The most common type in children is called „minimal change disease” (MCD). The cause of MCD is not known. […] Focal segmental glomerulosclerosis (FSGS) is the second most common cause of nephrotic syndrome in children. […] In some cases, FSGS may be caused by a genetic abnormality. Most often, though the cause is not known. […] Other rare causes of childhood nephrotic syndrome include congenital nephrotic syndrome (occurs in children less than 3 months of age) and membranoproliferative glomerulonephritis (MPGN). Nephrotic syndrome may also be due to disorders such as lupus, infection or obesity.
  • #10 Pediatric Nephrotic Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/982920-overview
    Causes of INS include the following: Minimal change nephrotic syndrome (MCNS), Focal segmental glomerulosclerosis (FSGS), Membranoproliferative glomerulonephritis (MPGN), Membranous glomerulonephritis (MGN), C3 glomerulonephritis, IgA nephropathy, and Idiopathic crescentic glomerulonephritis. […] Causes of genetic or congenital nephrotic syndrome include the following: Finnish-type congenital nephrotic syndrome (NPHS1, nephrin), Denys-Drash syndrome (WT1), Frasier syndrome (WT1), Diffuse mesangial sclerosis (WT1, PLCE1), Autosomal recessive, familial FSGS (NPHS2, podocin), Autosomal dominant, familial FSGS (ACTN4, -actinin-4, TRPC6), Nail-patella syndrome (LMX1B), Pierson syndrome (LAMB2), Schimke immuno-osseous dysplasia (SMARCAL1), Galloway-Mowat syndrome, and Oculocerebrorenal (Lowe) syndrome.
  • #10 Pediatric Nephrotic Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/982920-overview
    Nephrotic syndrome is defined by nephrotic range proteinuria, hyperlipidemia, hypoalbuminemia, and edema. […] The glomerular diseases that cause nephrotic syndrome can be divided into primary and secondary etiologies. Primary nephrotic syndrome, also known as idiopathic nephrotic syndrome (INS), is associated with glomerular diseases intrinsic to the kidney and not related to systemic disorders. […] By definition, secondary nephrotic syndrome refers to an etiology extrinsic to the kidney. Among the many secondary causes of nephrotic syndrome are the following: autoimmune and vasculitic diseases, such as Henoch-Schnlein purpura (HSP), systemic lupus erythematosus, and antineutrophil cytoplasmic antibody (ANCA)associated vasculitis; infectious diseases, such as congenital syphilis, malaria, human immunodeficiency virus (HIV) infection, hepatitis B and C, and in the current era, COVID-19; malignancy; environmental and drug exposure, such as heroin and mercury; an endocrine disorder; poorly controlled diabetes mellitus; and an inborn error of metabolism, such as Fabry disease.
  • #10 Pediatric Nephrotic Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/982920-overview
    Infections that can cause secondary nephrotic syndrome include the following: congenital syphilis, toxoplasmosis, cytomegalovirus infection, rubella, hepatitis B and C, HIV infection/acquired immunodeficiency syndrome (AIDS), and malaria. […] Drugs that can cause secondary nephrotic syndrome include the following: penicillamine, gold, nonsteroidal anti-inflammatory drugs (NSAIDs), interferon, mercury, heroin, pamidronate, and lithium. […] Systemic diseases that can cause secondary nephrotic syndrome include the following: systemic lupus erythematosus, malignancy (lymphoma, leukemia), vasculitis (granulomatosis with polyangiitis, Churg-Strauss syndrome, polyarteritis nodosa, microscopic polyangiitis, Henoch-Schnlein purpura), and immune-complex-mediated poststreptococcal glomerulonephritis.
  • #11 Nephrotic syndrome in children
    https://www.nhs.uk/conditions/nephrotic-syndrome/
    Nephrotic syndrome can sometimes occur as a result of a kidney problem or another condition, such as: glomerulosclerosis when the inside of the kidney becomes scarred […] glomerulonephritis inflammation inside the kidney […] an infection such as HIV or hepatitis […] lupus […] diabetes […] sickle cell anaemia […] in very rare cases, certain types of cancer such as leukaemia, multiple myeloma or lymphoma. […] Most children with nephrotic syndrome have „minimal change disease”. This means that their kidneys appear normal or nearly normal if a tissue sample is studied under a microscope. But changes to the tissue sample can be seen if it’s studied under an extremely powerful electron microscope. The cause of minimal change disease is unknown. […] Congenital nephrotic syndrome is usually caused by an inherited faulty gene. For the condition to be passed on to a child, both parents must have a healthy copy of the gene and a faulty one.
  • #12 Causes of nephrotic syndrome | infoKID
    https://infokid.org.uk/conditions/nephrotic-syndrome/causes-of-nephrotic-syndrome/
    Systemic lupus erythematosus (SLE or lupus): The immune system does not work properly and can start to damage blood vessels in many parts of the body, sometimes including the kidney. […] Henoch-Schnlein purpura (HSP): Blood vessels in the body, including in the kidney, become inflamed (swollen), causing symptoms such as a skin rash, pain in the tummy, and pain in the arms and legs. […] Alport syndrome: A very rare condition that runs in families, which may also be called hereditary nephritis. […] Diabetes: Children who have diabetes are not able to control the level of sugar in their blood. If there is too much sugar in their blood, it may damage their glomeruli. […] Some infections, including hepatitis B and malaria, can, rarely, cause nephrotic syndrome. […] Rarely, poisons such as the metals lead and mercury can cause nephrotic syndrome.
  • #12 Causes of nephrotic syndrome | infoKID
    https://infokid.org.uk/conditions/nephrotic-syndrome/causes-of-nephrotic-syndrome/
    Studies show that different types of nephrotic syndrome are linked to the immune system, which normally protects the body against disease and infection. […] In nephrotic syndrome, the immune system can interfere with the tiny filters in the kidneys, the glomeruli. […] In nephrotic syndrome, there is a change in the glomeruli. They become more leaky, and so some proteins pass through, leaving the body in urine. […] A few children (about 1 in 10) have a type that cannot be treated by steroids alone this is called steroid resistant nephrotic syndrome (SRNS) because it is resistant (does not respond) to steroid treatment. Focal segmental glomerulosclerosis (FSGS) and IgM nephropathy are causes of steroid-resistant nephrotic syndrome. […] Other cases of nephrotic syndrome are very rare in children: Glomerulonephritis: A group of conditions that cause inflammation (swelling) in the glomeruli, the tiny filters in the kidneys.
  • #13 Nephrotic Syndrome in Children – NIDDK
    https://www.niddk.nih.gov/health-information/kidney-disease/children/nephrotic-syndrome-children
    Kidney disease that affects a kidneys filtering system is the most common cause of nephrotic syndrome in children. Other causes can include diseases that affect other parts of the body, infections, some medicines, and genetics. […] Four types of kidney disease can cause primary nephrotic syndrome in children and adolescents. […] Causes of secondary nephrotic syndrome in children include diseases that involve many organs or the whole body, called systemic diseases. Examples include IgA vasculitis (also known as Henoch-Schnlein purpura) and lupus. […] Among newborns and infants younger than 12 months old, the two most common causes of nephrotic syndrome are genetic variants, which account for most cases of congenital nephrotic syndrome, and infections present at or before birth, such as syphilis and toxoplasmosis.
  • #14 Overview of Nephrotic Syndrome – Genitourinary Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/genitourinary-disorders/glomerular-disorders/overview-of-nephrotic-syndrome
    Nephrotic syndrome occurs at any age but is more prevalent in children (primarily minimal change disease), with a mean age of diagnosis of 5 to 6 years. […] Causes differ by age and may be primary or secondary. […] The most common primary causes are minimal change disease, focal segmental glomerulosclerosis, and membranous nephropathy. […] Important secondary causes, more common in adults than children, include diabetic nephropathy, systemic lupus erythematosus, and preeclampsia. […] Amyloidosis is an underrecognized cause. […] HIV-associated nephropathy is a type of focal segmental glomerulosclerosis that occurs in patients with advanced HIV infection.
  • #15
    https://link.springer.com/article/10.1007/s00467-007-0633-9
    Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. The majority of cases are caused by genetic defects in the components of the glomerular filtration barrier, especially nephrin and podocin. CNS may also be a part of a more generalized syndrome or caused by a perinatal infection. […] Mutations in the NPHS1 gene cause CNS, which was originally named as the Finnish type of CNS, or CNF. […] Mutations in the NPHS2 gene, encoding for a podocyte protein podocin, are a common cause of childhood (steroid-resistant) NS, but they are also important in the development of CNS. […] Genetic defects account for the great majority of CNS cases, but especially in developing countries, infections are a possible etiology. Congenital syphilis has long been known to cause nephritic or nephrotic syndrome in the newborn. […] In addition to infections, CNS has been associated with maternal systemic lupus erythematosus and more recently with neonatal alloimmunization against neutral endopeptidase present on podocytes.
  • #16 Table: Secondary Causes of Nephrotic Syndrome-MSD Manual Consumer Version
    https://www.msdmanuals.com/home/multimedia/table/secondary-causes-of-nephrotic-syndrome
    Secondary Causes of Nephrotic Syndrome […] Diseases […] Amyloidosis […] Cancer (lymphoma, leukemia, or various solid tumors) […] Diabetes mellitus* […] Some glomerulonephritis (including rapidly progressive glomerulonephritis caused by streptococcal or staphylococcal infection) […] Obesity* […] Preeclampsia […] Protozoal infections (usually schistosomiasis or malaria) […] Systemic lupus erythematosus (lupus)* […] Vasculitic disorders (immunoglobulin A vasculitis, granulomatosis with polyangiitis, or microscopic polyangiitis) […] Viral infections (particularly hepatitis B,* hepatitis C,* or human immunodeficiency virus [HIV]*) […] Medications or illicit drugs […] Gold […] Heroin […] Nonsteroidal anti-inflammatory drugs (NSAIDs)* […] Penicillamine […] Allergies […] Insect bites […] Pollens […] Poison ivy and poison oak […] * Asterisks indicate the most common causes.
  • #17 Nephrotic Syndrome Treatments, Causes, & Symptoms – American Kidney Fund (AKF)
    https://www.kidneyfund.org/all-about-kidneys/other-kidney-problems/nephrotic-syndrome-treatments-causes-symptoms
    Nephrotic syndrome happens when you have a disease that damages the filters in your kidneys causes them to not work as they should. There are primary and secondary causes of nephrotic syndrome. […] In children, the most common primary cause of nephrotic syndrome is minimal change disease. […] The most common secondary cause of nephrotic syndrome in children is diabetes.
  • #18 Nephrotic syndrome | nidirect
    https://www.nidirect.gov.uk/conditions/nephrotic-syndrome
    Nephrotic syndrome can sometimes occur as a result of a kidney problem or another condition, including: glomerulosclerosis when the inside of the kidney becomes scarred […] glomerulonephritis inflammation inside the kidney […] an infection such as HIV or hepatitis […] lupus […] diabetes […] amyloidosis […] sickle cell anaemia […] in very rare cases, certain types of cancer, such as leukaemia, multiple myeloma or lymphoma. It has also been found to sometimes be linked to taking some medication, including: gold […] some antibiotics […] nonsteroidal anti-inflammatory drugs (NSAIDs) […] penicillamine […] lithium.
  • #19 Nephrotic Syndrome In Children: Symptoms, Diagnosis & Treatment | National Kidney Foundation
    https://www.kidney.org/kidney-topics/childhood-nephrotic-syndrome
    Children with too much protein in their urine, sudden weight gain, and swelling in various body parts could have a condition called nephrotic syndrome. […] In most cases, the cause is not known. However, a number of conditions can damage the glomeruli and cause nephrotic syndrome. In children, the most common cause is due to minimal change disease. The cause of minimal change disease isn’t known, but it can be related to infections, tumors, allergic reactions, and overuse of over-the-counter medications like ibuprofen and acetaminophen. […] Other conditions can damage the glomeruli, including other kidney conditions, immune system problems, infections, or diseases like cancer and diabetes. In certain cases, an allergic reaction to food or the use of certain legal and illegal drugs, or obesity can lead to nephrotic syndrome.
  • #20 Causes and Pathophysiology of Nephrotic Syndrome in Childhood | IntechOpen
    https://www.intechopen.com/chapters/69943
    For a few cases in this age group genetic disease is also responsible. […] To a number of systemic diseases in children, nephrotic syndrome may also be secondary. […] Infective factors can also cause nephrotic syndrome and can be bacterial, viral, or parasitic. […] Drugs such as angiotensin converting enzyme inhibitors (ACEIs), penicillamine, gold, nonsteroidal antiinflammatory drugs (NSAIDs), sickle cell disease, bee stings, lymphoma, leukemia, and various types of food allergies are the other less common causes of nephrotic syndrome. […] Nephrotic syndrome may also be part of multisystemic syndromes such as nail-patella syndrome, Pierson syndrome, Denys-Drash syndrome, and others or a sequence of congenital infections such as cytomegalovirus and syphilis.
  • #21 Nephrotic Syndrome in Children – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=nephrotic-syndrome-in-children-90-P03098
    Nephrotic syndrome is a problem where too much protein called albumin is released from the body into the urine. It means that one or both kidneys are damaged. […] Most children with this problem have idiopathic nephrotic syndrome. Idiopathic means that it occurs with no known cause. […] In rare cases, a nephrotic syndrome may occur in the first week of life. This is called congenital nephrotic syndrome. It is inherited by an autosomal recessive gene. This means that boys and girls are equally affected. A child inherits 1 copy of the gene from each parent, who are carriers. Carrier parents have a 1 in 4 chance of having a child with this syndrome with each pregnancy. The outcome for this type of nephrotic syndrome is very poor.
  • #22 Frontiers | Monogenic Causes of Proteinuria in Children
    https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2018.00055/full
    To date, more than 50 genes have been identified as causative factors in nephrotic syndrome in children and adults. […] Based on etiology, nephrotic syndrome is classified as primary (idiopathic) or secondary due to infection (malaria, hepatitis, and HIV), malignancy (Hodgkin’s and non-Hodgkin’s lymphoma, bronchogenic carcinoma, and colon carcinoma), or other causes. […] Nephrotic syndrome diagnosed in the first 3 months of life is called congenital nephrotic syndrome and is caused by genetic mutations in vast majority of the patients. […] The age at diagnosis greatly influenced the likelihood of finding a genetic mutation. […] The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15–16% in schoolchildren and adolescents.
  • #22 Frontiers | Monogenic Causes of Proteinuria in Children
    https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2018.00055/full
    More than 50 monogenic causes of proteinuria have been identified which affect glomerular filtration barrier (slit diaphragm, podocyte actin cytoskeleton, adhesion, and GBM proteins), podocytes biology (mitochondria, nuclear transcription factors), and proximal tubule protein reabsorption pathways. […] A positive test result for certain gene mutations has been shown to be associated with SRNS and knowledge of this information will help clinicians to avoid a trial of steroid therapy in such patients, determine renal prognosis and for genetic counseling of families.
  • #23 Congenital nephrotic syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome/
    Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. […] The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. […] Mutations in the NPHS1 or NPHS2 gene cause most cases of congenital nephrotic syndrome. […] Mutations in the NPHS1 or NPHS2 gene result in a decrease or absence of functional protein, which impairs the formation of normal slit diaphragms. […] NPHS1 gene mutations cause all cases of congenital nephrotic syndrome of the Finnish type. […] Mutations in other genes cause a small number of cases of congenital nephrotic syndrome. […] In these cases, the cause of the condition may be environmental, including infections such as congenital syphilis or toxoplasmosis, or it may be caused by mutations in unidentified genes.
  • #24 Nephrotic Syndrome in Children | Concise Medical Knowledge
    https://www.lecturio.com/concepts/nephrotic-syndrome-in-children/
    Nongenetic causes (also classified as secondary): Congenital syphilis, congenital toxoplasmosis, other: cytomegalovirus, HIV. […] Congenital nephrotic syndrome of the Finnish type (autosomal recessive). […] Autosomal recessive familial focal segmental glomerulosclerosis (FSGS). […] Autosomal dominant FSGS. […] Frasier syndrome. […] Diffuse mesangial sclerosis. […] Nail patella syndrome. […] Pierson syndrome. […] Schimke immuno-osseous dysplasia.
  • #25 Understanding Childhood Nephrotic Syndrome
    https://www.massgeneral.org/children/nephrotic-syndrome
    Childhood nephrotic syndrome is a disease that damages the glomeruli in the kidneys. […] In many cases, we do not know what causes nephrotic syndrome. We think it might be triggered by allergies, a cold, the flu or other viral illnesses. […] Sometimes, your child can relapse, which means he or she can develop nephrotic syndrome again shortly after recovering from it. We think relapses are caused by viral illnesses or infections.
  • #26 Nephrotic Syndrome (Kidney Disease) | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/nephrotic-syndrome-kidney-disease
    Nephrotic syndrome (NS) is the name given to a collection of kidney-related findings in your child’s body. […] In the vast majority of children, NS is idiopathic, meaning that doctors don’t yet know what causes it. […] One way to categorize types of nephrotic syndrome is by what’s causing them. Idiopathic nephrotic syndrome—the kind most children have—occurs for a reason that is unknown. Secondary nephrotic syndrome is caused by another medical condition or treatment for another condition, such as diabetes, hepatitis B and hepatitis C, medications (such as corticosteroids), cancer, and lupus. […] Most children have idiopathic nephrotic syndrome, which means that there is no clear cause. Researchers have identified a few genetic associations, but not strongly enough that it can be characterized as a genetic syndrome. In other parts of the world, where children are more likely to be affected by focal sclerosis (FSGS) than by minimal change disease (MCD), FSGS seems to have more clearly defined genetic causes. In rare cases, nephrotic syndrome may develop from a viral disease, such as hepatitis or HIV, and relapses may also be triggered by viruses. Certain medications may cause nephrotic syndrome, too.
  • #27 Nephrotic Syndrome: In Children, Treatment, and Causes
    https://www.healthline.com/health/nephrotic-syndrome
    Nephrotic syndrome happens when damage to your kidneys causes these organs to release too much protein into your urine. […] Nephrotic syndrome isnt itself a disease. Diseases that damage blood vessels in your kidneys cause this syndrome. […] Nephrotic syndrome happens when the glomeruli are damaged and cant properly filter your blood. Damage to these blood vessels allows protein to leak into your urine. […] Some conditions that cause nephrotic syndrome only affect the kidneys. These are called primary causes of nephrotic syndrome. […] Other diseases that cause nephrotic syndrome affect the whole body. These are called secondary causes of nephrotic syndrome. […] Some children can have something called congenital nephrotic syndrome, which happens in the first 3 months of life. This can be caused by an inherited genetic defect or an infection shortly after birth. […] Both primary and secondary nephrotic syndrome can occur in children. Primary nephrotic syndrome is the most common type in children.
  • #28 Clinical manifestations, diagnosis, and evaluation of nephrotic syndrome in children – UpToDate
    https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-evaluation-of-nephrotic-syndrome-in-children
    The nephrotic syndrome (NS) is caused by increased permeability across the glomerular filtration barrier. It is classically characterized by nephrotic range proteinuria, hypoalbuminemia, and edema. The first two features are diagnostic. […] Causes of nephrotic syndrome in infants and children.
  • #29 Nephrotic syndrome | infoKID
    https://infokid.org.uk/conditions/nephrotic-syndrome/
    Nephrotic syndrome is rare about 1 in 50,000 children get nephrotic syndrome each year. It affects more boys than girls. It can happen in people of all ages, though often starts when a child is between 2 and 5 years old. […] Many cases are linked to the immune system, which normally protects the body against disease and infection. […] There are different types of nephrotic syndrome. These are described by whether steroid medicine will treat the symptoms, or what is causing the symptoms. […] FSGS and IgM nephropathy cause nephrotic syndrome in children, where the kidneys leak too much protein into the urine and lead to swelling in the body.
  • #30 Nephrotic syndrome in children: Exploring new treatments | Northwell Health
    https://feinstein.northwell.edu/news/the-latest/nephrotic-syndrome-in-children-studying-new-treatments
    Nephrotic syndrome is usually caused by damage to the clusters of small blood vessels in the kidneys that filter waste and excess water from the blood. […] Nephrotic syndrome in children is rare affecting fewer than 5 in 100,000 globally each year and can be caused either by kidney disease (primary nephrotic syndrome) or other causes, such as infections, medicines or diseases that affect other parts of the body (secondary nephrotic syndrome). […] Children with nephrotic syndrome suffer from the symptoms of the illness and from the side effects of steroids used in treatment.
  • #31
    https://www.cgh.com.sg/patient-care/conditions-treatments/nephrotic-syndrome-children
    Childhood nephrotic syndrome is a kidney condition that results from abnormal leakage of protein in the urine. […] There are various forms of nephrotic syndrome in children and the most common is Minimal Change Disease. Its underlying cause is still unknown. […] Lifestyle changes or food are not known to cause Nephrotic Syndrome. […] It is seen more frequently in boys and tends to occur in children between 2 to 6 years.
  • #32 Nephrotic syndrome – Don’t Forget the Bubbles
    https://dontforgetthebubbles.com/nephrotic-syndrome/
    Nephrotic syndrome is the most common glomerular disorder of childhood, affecting 2-7 children in 100,000 per year. It most typically affects children aged 2-12 and is characterised by proteinuria, hypoalbuminaemia and oedema. […] The aetiology is unclear; however, it could be related to circulating factors that, via immune mechanisms, alter the podocyte function and, thus, the glomerular filtration border (GFB). […] Idiopathic nephrotic syndrome (INS) is the most common cause in children. […] Focal segmental glomerulosclerosis (FSGS) carries a poorer prognosis and is more common in children of African descent. […] Congenital nephrotic syndrome/hereditary focal glomerulosclerosis occurs due to mutations in podocyte proteins such as podocin, nephrin, or cation channel 6 protein. […] Immune disorders such as IgA vasculitis (Henoch-Schonlein purpura) and lupus […] Infective causes Hepatitis B and C, HIV and malaria […] Haematological disease sickle cell, lymphoma, and leukaemia […] Medication NSAIDs.
  • #33 Nephrotic Syndrome in Children | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/nephrotic-syndrome-in-children
    Idiopathic nephrotic syndrome accounts for about 90% of children with nephrotic syndrome. […] The type of nephrotic syndrome that is most common in children is called idiopathic nephrotic syndrome. It accounts for about 90 percent of children with nephrotic syndrome. Idiopathic means that a disease occurs with no known cause. […] There is a rare nephrotic syndrome present in the first week of life called congenital nephrotic syndrome. Congenital nephrotic syndrome is inherited by an autosomal recessive gene, which means that males and females are equally affected, and the child inherited one copy of the gene from each parent, who are carriers. The chance for carrier parents to have a child with congenital nephrotic syndrome is one in four, or 25 percent, with each pregnancy. The outcome for this type of nephrotic syndrome is extremely poor.
  • #34 What Is Nephrotic Syndrome in Children?
    https://www.icliniq.com/articles/kidney-and-urologic-diseases/nephrotic-syndrome-in-children
    Nephrotic syndrome can result from various causes, which are typically categorized into primary and secondary causes. Primary causes are related to kidney damage without an apparent external factor, while secondary causes are due to underlying systemic conditions. […] The most common cause of primary nephrotic syndrome in children is Minimal Change Disease (MCD). MCD is characterized by minimal changes seen under a microscope, yet it leads to significant dysfunction in the kidney’s filtering units, the glomeruli. Other less common types include Focal Segmental Glomerulosclerosis (FSGS) and Membranoproliferative Glomerulonephritis (MPGN). […] These are due to systemic diseases that affect the kidney, such as diabetes, lupus, or infections like Hepatitis B and C. However, these are less common in children compared to adults.
  • #35 Nephrotic Syndrome: Etiology, Genetic Testing, and Biomarkers | Frontiers Research Topic
    https://www.frontiersin.org/research-topics/7818/nephrotic-syndrome-etiology-genetic-testing-and-biomarkers/magazine
    Nephrotic syndrome is the most common form of kidney disease in children and presents with massive leak of serum proteins into the urine resulting in low serum albumin levels, edema, severe hypercholesterolemia, hypertension, increased risk of infection, thrombosis, and kidney failure. […] Current therapeutic options display variable and unsatisfactory efficacy influenced by heterogeneous etiology of the syndrome as well as medication costs and side effects. […] There have been numerous advances related to the etiology, novel mutations, diagnostic tools, disease biomarkers, treatments, as well as innovative monitoring strategies of nephrotic syndrome.