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
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Abstract
Autosomal dominant polycystic kidney disease
(ADKPD) is the most frequent type of polycystic kidney
disease. It is inherited through family members, with an
incidence of approximately 1:400 to1:1000.Typically, individuals
with ADKPD are identified between their fourth
and fifth decade of life. ADKPD occurs as a results of mutation
in one of the two genes, PDK1 and PDK2.Patients
with PKD1 experience renal failure at an earlier onset
than those with PKD2. We report on a 2 year-old-boy with
hepatosplenomegaly and signs of portal hypertension. Both
kidneys appeared normal until the age of 8, when multiple
cysts developed, this being typical of ADKPD. Suspecting
ADKPD, we performed whole exome sequencing,
thereby confirming a mutation of c.6730 673del p.(Ser
2244Hisfs*17). The investigations of all family members
found other individuals affected by ADKPD.
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