TürkiyeDiagnosis and screening
Causes of jaundice in 378 babies in Ankara: inherited diseases such as PFIC account for a significant share
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice. The study includes 378 babies. An inherited cause was found in 28% of the babies. These included progressive familial intrahepatic cholestasis. Among families who received a diagnosis, 56% had a marriage between relatives.
What does it mean for patients and families?
In prolonged infant jaundice, gene testing can speed up diagnosis. The risk may be higher in families with marriage between relatives. The decision to test is made with a pediatric gastroenterologist.
Source
Scientific paper: Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes. Journal of Paediatrics and Child Health, 2025. DOI: 10.1111/jpc.70072 · PubMed 40302296
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Progressive familial intrahepatic cholestasis (PFIC)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.