Balkan Journal of Medical Genetics

CONGENITAL HEPATIC FIBROSIS AS AN EARLY SIGN OF PRESENTATION OF ADPKD
Sila L.1, Velmishi V.2,*, Saraci B.3, Dervishi E.2, Sila S.4, Shtiza D.5, Cullufi P.2
*Corresponding Author: PhD Virtut Velmishi, Work address: Pediatric department; Dibra Street Nr 372, Tirana - Albania, e-mail: tutimodh@yahoo.com
page: 91

INTRODUCTION

The most common type of inherited polycystic kidney disease, known as ADKPD, typically presents in adults, but it is now well-recognized in children of all ages. A variety of polycystic kidney diseases are accompanied by congenital hepatic fibrosis, but rarely ADKPD[1,2,3,4]. A rare autosomal recessive condition known as Congenital hepatic fibrosis (CHF) is characterized bybile duct distortion and periportal fibrosis in varying degrees. It is usually assumed to be a characteristic for autosomal recessive polycystic kidney disease. Manifestations of portal hypertension such as hypersplenism and variceal bleeding in early infancy or childhood are commonly present in the diagnosis of CHF [18]. However, some of these patients may not develop any symptoms for many years, leading to a late adult CHF diagnosis. This case report describes a large family with ADKPD, whose 8-year-old son is the only member who manifests congenital hepatic fibrosis with portal hypertension, based on the results of imaging techniques (ultrasonography, hepatic elastography), liver biopsy and a genetic test.

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