Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant

Samira Al Housni, Khalid Al-Thihli, Dafalla Rahmatalla, Yasser Wali, Yusriya Al Rawahi*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمقالمراجعة النظراء

1 اقتباس (Scopus)

ملخص

Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a relatively newly described autosomal recessive disorder caused by biallelic mutations in the gene encoding tight junction protein 2 ( TJP2) which is located in chromosome 9q21. PFIC4 is characterised by cholestasis with or without other extrahepatic manifestations. Bleeding tendency due to vitamin k deficiency is a well-known complication of cholestasis. We present a neonate who presented to the Emergency Department at a tertiary care hospital in 2021 with cholestasis and multiple intracranial bleeds. He was found to have severe coagulopathy and his genetic work up revealed a homozygous variant mutation in TJP2 gene causing PFIC4. He had persistent cholestasis that necessitated an internal biliary diversion with some clinical improvement.

اللغة الأصليةEnglish
الصفحات (من إلى)543-546
عدد الصفحات4
دوريةSultan Qaboos University Medical Journal
مستوى الصوت23
رقم الإصدار4
المعرِّفات الرقمية للأشياء
حالة النشرPublished - نوفمبر 30 2023

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2700???

قم بذكر هذا