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 الأصلية | English |
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الصفحات (من إلى) | 543-546 |
عدد الصفحات | 4 |
دورية | Sultan Qaboos University Medical Journal |
مستوى الصوت | 23 |
رقم الإصدار | 4 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - نوفمبر 30 2023 |
ASJC Scopus subject areas
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