A child with debilitating pruritus
| Autor: | Nikhil Sonthalia, Sami S. Jain, Vinay B. Pawar, Vinay G. Zanwar, Ravindra G. Surude, Pravin M. Rathi, Kshitij K. Munde, Sandeep Bavdekar |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Clinics and Practice, Vol 6, Iss 4 (2016) |
| Druh dokumentu: | article |
| ISSN: | 2039-7275 2039-7283 |
| DOI: | 10.4081/cp.2016.865 |
| Popis: | We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder. |
| Databáze: | Directory of Open Access Journals |
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