A suspected case of Progressive Familial Intra-hepatic Cholestasis in a Six-Year-Old Nigerian Child
DOI:
https://doi.org/10.30442/ahr.0501-14-44Keywords:
Childhood, Conjugated hyperbilirubinaemia, Progressive Familial Intra-hepatic Cholestasis, Pruritus, Ursodeoxycholic acidAbstract
Progressive Familial Intra-hepatic Cholestasis (PFIC) is a group of heterogeneous, autosomal recessive disorders characterized by cholestasis, jaundice and mutilating pruritus, mostly in infancy. The incidence of PFIC ranges from 1:50,000 to 1:100,000. There are three subtypes; Types 1 and 2 typically present in the neonatal period and early infancy while Type 3 can present in early infancy, childhood or adolescence.
This report is about a 6-year old Nigerian girl who presented with jaundice and severe pruritus of one-month duration and abdominal pain of a week duration. The symptoms were preceded by ingestion of Atropine meant for ocular examination two days earlier. She was well-nourished, deeply icteric, had generalized healing scratch marks and hepatomegaly. The laboratory findings included conjugated hyperbilirubinaemia, moderately elevated liver transaminases and Gamma-Glutamyltransferase enzymes. She was managed for PFIC3 using oral ursodeoxycholic acid with complete resolution of the disease.
References
Gaur K, Sakhuja P. Progressive familial Intra-hepatic cholestasis: A comprehensive review of a challenging liver disease. Indian J Pathol Microbiol 2017; 60(1): 2–7.
Gunaydin M, BozkurterCil AT. Progressive familial Intra-hepatic cholestasis: diagnosis, management, and treatment. Hepat Med 2018; 10: 95–104. Available at https://doi.org/10.2147/HMER.S137209. Accessed on 30 July 2018.
Amer S, Hajira A. Comprehensive Review of Progressive Familial Intra-hepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters. Gastroenterol Res 2014; 7(2): 39–43. doi: [10.14740/gr609e. Accessed on 04 August 2018.
Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003; 124(4): 1037–1042. doi: 10.1053/gast.2003.50144 Accessed on 04 August 2018.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial Intra-hepatic cholestasis. Clin Res Hepatol Gastroenterol 2019; 43(1): 20-36.
Ramraj R, Finegold MJ, Karpen SJ. Progressive familial Intra-hepatic cholestasis type-3 overlapping presentation with Wilson disease. Clin Pediatr (Phila) 2012; 51(7): 689-691.
Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001; 120: 1448-1458.
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial Intra-hepatic cholestasis. Orphanet J Rare Dis 2009; 4: 1. Available at https://doi.org/10.1186/1750-1172-4-1 Accessed on 10 September 2018.
Reshetnyak VI. Concept of the pathogenesis and treatment of cholelithiasis. World J Hepatol 2012; 4(2): 18–34.
Kurbegov AC, Setchell KD, Haas JE, Mierau GW, Narkewicz M, Bancroft JD, et al. Biliary diversion for progressive familial Intra-hepatic cholestasis: Improved liver morphology and bile acid profile. Gastroenterology 2003; 125: 1227-1234.
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