Zespół patau
Rokowania, prognozy i postęp choroby
Zespół Patau (trisomia 13) charakteryzuje się bardzo złym rokowaniem z powodu licznych wad rozwojowych obejmujących mózg, serce, rdzeń kręgowy i płuca. Mediana przeżycia w pełnej trisomii 13 wynosi od 7 do 10 dni, przy czym około 43,1% niemowląt przeżywa dłużej niż tydzień, 80% umiera w ciągu pierwszych 3 miesięcy, a 90% nie dożywa pierwszego roku życia. Dłuższe przeżycie (ponad 5 lat) obserwuje się u zaledwie 9,7% pacjentów, a do 10 roku życia przeżywa około 13%. Rokowanie jest lepsze u pacjentów z mozaikową formą zespołu lub niezrównoważonymi translokacjami, którzy wykazują mniej nasilone objawy. Niższa częstość wad serca (46% vs. 50-85%) oraz mniejsza liczba rozszczepów wargi i podniebienia u długo żyjących pacjentów sugerują, że mniejsze nasilenie wad linii środkowej ciała może sprzyjać przeżyciu.
Zespół Patau – Rokowanie (przewidywanie przebiegu choroby)
Zespół Patau (trisomia 13) charakteryzuje się ogólnie złym rokowaniem ze względu na liczne wady rozwojowe dotykające przede wszystkim mózgu, serca, rdzenia kręgowego i płuc.1 Przewidywania dotyczące długości życia pacjentów z tym zespołem wskazują na krótkie przeżycie w większości przypadków, szczególnie w pełnej formie trisomii 13.
Przeżywalność i oczekiwana długość życia
W pełnej postaci zespołu Patau mediana przeżycia wynosi od 7 do 10 dni u żywo urodzonych pacjentów.23 Statystyki dotyczące przeżywalności wskazują, że:
- Około 43,1% niemowląt z pełną formą zespołu Patau przeżywa dłużej niż tydzień4
- 80% niemowląt umiera w ciągu pierwszych 3 miesięcy życia5
- 90% pacjentów nie przeżywa pierwszego roku życia67
- Tylko 9,7% pacjentów przeżywa dłużej niż 5 lat8
- Około 13% przeżywa do 10 roku życia9
Warto zauważyć, że mediana długości życia określana jest w jednym ze źródeł na 710 dni.10 Jednak inne badania podają krótszy okres przeżycia, szczególnie w przypadkach bez intensywnego leczenia medycznego.
Czynniki wpływające na rokowanie
Istnieje kilka czynników, które wyraźnie wpływają na rokowanie pacjentów z zespołem Patau:
Mozaikowość i translokacje
Rokowanie jest znacznie lepsze u pacjentów z mozaikową formą zespołu Patau oraz u pacjentów z niezrównoważonymi translokacjami.11 Osoby z tymi wariantami genetycznymi często wykazują mniej nasilone objawy, co może przełożyć się na dłuższe przeżycie.12 Oczekiwana długość życia dla niemowląt z mozaikowymi lub częściowymi formami zespołu Patau jest bardzo zróżnicowana – niektóre mogą żyć znacznie dłużej, podczas gdy inne mają krótszą przewidywaną długość życia.1314
Występowanie wad serca
U pacjentów z zespołem Patau, którzy żyją dłużej, zaobserwowano mniejszą częstość występowania wad serca. Tylko 46% długo żyjących pacjentów z pełną trisomią 13 ma wady serca, w porównaniu do 50-85% wszystkich przypadków zespołu Patau.15 Ta niższa częstość występowania wad serca może być potencjalnym czynnikiem wpływającym na ich przeżywalność.16
Inne wady rozwojowe
Niższa częstość występowania rozszczepu wargi/podniebienia u pacjentów z trisomią 13 żyjących dłużej może odzwierciedlać niższą częstość występowania innych wad linii środkowej ciała u tych pacjentów.17 Zmniejszona liczba ciężkich wad rozwojowych może przyczynić się do lepszego rokowania.
Wpływ interwencji medycznych na rokowanie
Intensywność opieki medycznej może znacząco wpłynąć na długość życia pacjentów z zespołem Patau:
- Agresywne postępowanie z interwencją chirurgiczną i leczeniem zachowawczym może wydłużyć medianę przeżycia do 733 dni według najnowszych badań18
- Leczenie żywieniowe i zabiegi chirurgiczne mogą zwiększyć przeżywalność niemowląt z trisomią 1319
- Spekuluje się, że agresywna opieka medyczna może odgrywać rolę w zwiększaniu oczekiwanej długości życia pacjentów z trisomią 1320
Z drugiej strony, niektórzy badacze, jak Rasmussen i współpracownicy, sugerują, że średnia oczekiwana długość życia pacjentów z trisomią 13 zmniejszyła się z czasem, co może wynikać z mniej agresywnej opieki medycznej, ponieważ klinicyści stają się coraz bardziej świadomi złego rokowania.21
Problemy zdrowotne wpływające na rokowanie
Niemowlęta z zespołem Patau doświadczają wielu problemów zdrowotnych, które wpływają na rokowanie:
- Trudności z karmieniem – niemowlęta z trisomią 13 są zwykle małe i mają problemy z karmieniem, które wpływają na wzrost i rozwój22
- Wrodzone wady serca – większość niemowląt z trisomią 13 ma wrodzone choroby serca, które powodują powikłania niemal natychmiast po urodzeniu23
- Wady rozwojowe mózgu, rdzenia kręgowego i płuc24
Przeżywalność prenatalna
Warto wspomnieć, że 50-80% ciąż z trisomią 13 kończy się samoistnym poronieniem w pierwszym lub wczesnym drugim trymestrze.25 W wielu przypadkach dziecko umiera przed osiągnięciem pełnego terminu (poronienie) lub rodzi się martwe.26
Długoterminowe perspektywy
Dzieci z trisomią 13, które przeżywają dłużej, rzadko dożywają wieku nastoletnego.27 Przypadki długiego przeżycia demonstrują ciężką niepełnosprawność, jakiej można oczekiwać od długo żyjącego dziecka z zespołem Patau.28 Mimo to, w literaturze opisywane są przypadki dłuższego przeżycia przy zastosowaniu agresywnych interwencji medycznych, co świadczy o pewnej zmienności w przebiegu tego zespołu.29
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Materiały źródłowe
- #1 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlookhttps://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome
The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. […] Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.
- #2 Patau Syndrome – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK538347/
Multiple large studies have detailed the overall poor prognosis of patients with Patau syndrome. Historically, median survival is 7 to 10 days in live-born patients, and 90% do not survive to 1 year. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.
- #3 Patau Syndrome (Trisomy 13) | Concise Medical Knowledgehttps://www.lecturio.com/concepts/patau-syndrome-trisomy-13/
50-80% of pregnancies are spontaneously aborted in the 1st or early 2nd trimester. […] Usual survival is 7-10 days. […] 80% of offspring born alive will die within the 1st 3 months.
- #4 Patau’s syndrome | NHS informhttps://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/
Full form Pataus syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 4 in 10 (43.1%) babies with full form Pataus syndrome will live longer than 1 week. Around 1 in 10 (9.7%) will live longer than 5 years. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
- #5 Patau Syndrome (Trisomy 13) | Concise Medical Knowledgehttps://www.lecturio.com/concepts/patau-syndrome-trisomy-13/
50-80% of pregnancies are spontaneously aborted in the 1st or early 2nd trimester. […] Usual survival is 7-10 days. […] 80% of offspring born alive will die within the 1st 3 months.
- #6 Patau Syndrome – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK538347/
Multiple large studies have detailed the overall poor prognosis of patients with Patau syndrome. Historically, median survival is 7 to 10 days in live-born patients, and 90% do not survive to 1 year. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.
- #7 Patau’s syndromehttps://www.nhs.uk/conditions/pataus-syndrome/
More than 9 out of 10 children born with Patau’s syndrome die during the first year. […] In many cases, the baby dies before reaching full term (miscarriage) or is dead at birth (stillbirth). […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.
- #8 Patau’s syndrome | NHS informhttps://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/
Full form Pataus syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 4 in 10 (43.1%) babies with full form Pataus syndrome will live longer than 1 week. Around 1 in 10 (9.7%) will live longer than 5 years. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
- #9 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Healthhttps://msdh.ms.gov/page/41,0,285,980.html
Infants with Trisomy 13 are unusually small and have feeding difficulties which affect growth and development. […] It is hard to predict how long a child with Trisomy 13 will live. Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.
- #10 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
The median life expectancy of Patau syndrome is 710 days, and 90% die in the first year of life. […] Survival beyond the first year has been associated with mosaicism. […] It is unknown why some individuals with full trisomy 13 can live up to their first decade and beyond, in view of the median life expectancy being 710 days. […] Only 46% of long-lived full trisomy 13 patients are reported to have cardiac defects in contrast to 50-85% of all Patau syndrome cases. […] The apparent lower incidence of heart defects in long-lived patients with full trisomy 13 may potentially be a factor underlying their survival. […] The lower incidence of cleft lip/palate in the long-lived patient population with trisomy 13 may reflect a lower incidence of other midline defects in these patients. […] It has been speculated that aggressive medical care may play a role in the increasing life expectancy of patients with trisomy 13.
- #11 Patau Syndrome – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK538347/
Multiple large studies have detailed the overall poor prognosis of patients with Patau syndrome. Historically, median survival is 7 to 10 days in live-born patients, and 90% do not survive to 1 year. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.
- #12 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
Conversely, Rasmussen et al have suggested that the average life expectancy of the trisomy 13 patient population has decreased over time, and that this may be due to less aggressive medical care provided as clinicians become increasingly aware of the poor prognosis. […] Some cases of mosaic trisomy 13 and trisomy 13 due to translocations have been associated with a longer average life expectancy than full trisomy 13 patients. […] This case demonstrates the severe disability expected from a long-lived child with Patau syndrome.
- #13 Patau’s syndrome | NHS informhttps://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/
Full form Pataus syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 4 in 10 (43.1%) babies with full form Pataus syndrome will live longer than 1 week. Around 1 in 10 (9.7%) will live longer than 5 years. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy.
- #14 Patau’s syndromehttps://www.nhs.uk/conditions/pataus-syndrome/
More than 9 out of 10 children born with Patau’s syndrome die during the first year. […] In many cases, the baby dies before reaching full term (miscarriage) or is dead at birth (stillbirth). […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.
- #15 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
The median life expectancy of Patau syndrome is 710 days, and 90% die in the first year of life. […] Survival beyond the first year has been associated with mosaicism. […] It is unknown why some individuals with full trisomy 13 can live up to their first decade and beyond, in view of the median life expectancy being 710 days. […] Only 46% of long-lived full trisomy 13 patients are reported to have cardiac defects in contrast to 50-85% of all Patau syndrome cases. […] The apparent lower incidence of heart defects in long-lived patients with full trisomy 13 may potentially be a factor underlying their survival. […] The lower incidence of cleft lip/palate in the long-lived patient population with trisomy 13 may reflect a lower incidence of other midline defects in these patients. […] It has been speculated that aggressive medical care may play a role in the increasing life expectancy of patients with trisomy 13.
- #16 Trisomy 13 Information | Mount Sinai – New Yorkhttps://www.mountsinai.org/health-library/diseases-conditions/trisomy-13
More than 90% of children with trisomy 13 die in the first year. […] Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.
- #17 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
The median life expectancy of Patau syndrome is 710 days, and 90% die in the first year of life. […] Survival beyond the first year has been associated with mosaicism. […] It is unknown why some individuals with full trisomy 13 can live up to their first decade and beyond, in view of the median life expectancy being 710 days. […] Only 46% of long-lived full trisomy 13 patients are reported to have cardiac defects in contrast to 50-85% of all Patau syndrome cases. […] The apparent lower incidence of heart defects in long-lived patients with full trisomy 13 may potentially be a factor underlying their survival. […] The lower incidence of cleft lip/palate in the long-lived patient population with trisomy 13 may reflect a lower incidence of other midline defects in these patients. […] It has been speculated that aggressive medical care may play a role in the increasing life expectancy of patients with trisomy 13.
- #18 Patau Syndrome – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK538347/
Multiple large studies have detailed the overall poor prognosis of patients with Patau syndrome. Historically, median survival is 7 to 10 days in live-born patients, and 90% do not survive to 1 year. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.
- #19 Trisomy 13: Symptoms, Diagnosis, Treatmenthttps://www.webmd.com/children/trisomy-13
Most babies born with it dont live past their first year, though some can survive much longer. […] More than 80% of babies with the condition dont live past their first month, and only 5%-10% live past age 1. About 10% live more than 5 years. […] Nutrition treatment and surgery can increase survival for babies with trisomy 13. But children with the condition rarely live into their teens.
- #20 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
The median life expectancy of Patau syndrome is 710 days, and 90% die in the first year of life. […] Survival beyond the first year has been associated with mosaicism. […] It is unknown why some individuals with full trisomy 13 can live up to their first decade and beyond, in view of the median life expectancy being 710 days. […] Only 46% of long-lived full trisomy 13 patients are reported to have cardiac defects in contrast to 50-85% of all Patau syndrome cases. […] The apparent lower incidence of heart defects in long-lived patients with full trisomy 13 may potentially be a factor underlying their survival. […] The lower incidence of cleft lip/palate in the long-lived patient population with trisomy 13 may reflect a lower incidence of other midline defects in these patients. […] It has been speculated that aggressive medical care may play a role in the increasing life expectancy of patients with trisomy 13.
- #21 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
Conversely, Rasmussen et al have suggested that the average life expectancy of the trisomy 13 patient population has decreased over time, and that this may be due to less aggressive medical care provided as clinicians become increasingly aware of the poor prognosis. […] Some cases of mosaic trisomy 13 and trisomy 13 due to translocations have been associated with a longer average life expectancy than full trisomy 13 patients. […] This case demonstrates the severe disability expected from a long-lived child with Patau syndrome.
- #22 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Healthhttps://msdh.ms.gov/page/41,0,285,980.html
Infants with Trisomy 13 are unusually small and have feeding difficulties which affect growth and development. […] It is hard to predict how long a child with Trisomy 13 will live. Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.
- #23 Trisomy 13 Information | Mount Sinai – New Yorkhttps://www.mountsinai.org/health-library/diseases-conditions/trisomy-13
More than 90% of children with trisomy 13 die in the first year. […] Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.
- #24 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlookhttps://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome
The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. […] Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.
- #25 Patau Syndrome (Trisomy 13) | Concise Medical Knowledgehttps://www.lecturio.com/concepts/patau-syndrome-trisomy-13/
50-80% of pregnancies are spontaneously aborted in the 1st or early 2nd trimester. […] Usual survival is 7-10 days. […] 80% of offspring born alive will die within the 1st 3 months.
- #26 Patau’s syndromehttps://www.nhs.uk/conditions/pataus-syndrome/
More than 9 out of 10 children born with Patau’s syndrome die during the first year. […] In many cases, the baby dies before reaching full term (miscarriage) or is dead at birth (stillbirth). […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.
- #27 Trisomy 13: Symptoms, Diagnosis, Treatmenthttps://www.webmd.com/children/trisomy-13
Most babies born with it dont live past their first year, though some can survive much longer. […] More than 80% of babies with the condition dont live past their first month, and only 5%-10% live past age 1. About 10% live more than 5 years. […] Nutrition treatment and surgery can increase survival for babies with trisomy 13. But children with the condition rarely live into their teens.
- #28 Longevity and Patau syndrome: what determines survival?https://pmc.ncbi.nlm.nih.gov/articles/PMC4543265/
Conversely, Rasmussen et al have suggested that the average life expectancy of the trisomy 13 patient population has decreased over time, and that this may be due to less aggressive medical care provided as clinicians become increasingly aware of the poor prognosis. […] Some cases of mosaic trisomy 13 and trisomy 13 due to translocations have been associated with a longer average life expectancy than full trisomy 13 patients. […] This case demonstrates the severe disability expected from a long-lived child with Patau syndrome.
- #29 Patau Syndrome – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK538347/
Multiple large studies have detailed the overall poor prognosis of patients with Patau syndrome. Historically, median survival is 7 to 10 days in live-born patients, and 90% do not survive to 1 year. […] Recently, reported cases of longer duration survival have come to light with the use of aggressive medical interventions. […] Prognosis is better in patients with mosaic Patau syndrome and patients with unbalanced translocations. […] Aggressive management with surgical and medical intervention may extend median survival to 733 days according to a recent study.