Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
Sultan Qaboos Univ Med J
; 23(4): 543-546, 2023 Nov.
Article
en En
| MEDLINE
| ID: mdl-38090248
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Colestasis
/
Colestasis Intrahepática
Límite:
Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Sultan Qaboos Univ Med J
Año:
2023
Tipo del documento:
Article
País de afiliación:
Omán