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

DISCUSSION

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent inherited renal cystic diseases that is identified by the growth of renal cysts and a variety of extra renal presentations. The report on the family shows good evidence of multiple renal cysts, transmitted by the family in a clear autosomal dominant pattern. In addition, one of the members of the third generation presents Congenital hepatic fibrosis .Despite being generally related to ARPKD, a few cases also associate CHF to ADKPD [1-9]. The significance of their occurrence is uncertain; these conditions have different modes of inheritance. A similar case is reported by Tazeeler [9] in a 19 yearold woman, whose family’s involvement with ADKPD was known. She firstly presented with portal hypertension and was eventually shown to have renal cysts and a family history of ADKPD. Manifestations of portal hypertension such as splenomegaly and variceal bleeding in early infancy or during childhood led to a diagnosis of CHF. Interestingly, some of these patients may be asymptomatic for a significant period of time, resulting to an unexpected CHF in adulthood [20]. Typical kidney and liver manifestation of ADKPD developed in the fourth and fifth decade of life in patients. Although, there are cases describing the presence of renal symptoms in ADKPD even in infancy and early childhood [5]. Similarly, as in our case, portal hypertension with CHF might be the first presenting signs of ADKPD [10-13]. While to the contrary in ARPKD, renal disease frequently precedes the symptoms related to CHF and complication of portal hypertension [14-17]. ADKPD may be present in childhood due to variability attributable to mutation at more than one locus. The first locus PK1 is present on chromosome 16 responsible for 85% of the cases. The penetrance of the autosomal dominant gene of ADKPD is almost 100%, so we needed to investigate the previous generation in the family. It is important to highlight that patients with ADKPD may grow large kidney cysts similar to those found in ARKPD, thus a family history is extremely important for a proper diagnosis of ADKPD with CHF [18, 19]. In addition to the renal cystic abnormalities in ADKPD, several extra renal changes may be noted such as cysts in the liver, ovary, and seminal vesicles, abdominal hernias, cerebral or aortic aneurysms [21, 22, and 23]. It is recommended to monitor via ultrasound for ADKPD in these patients and their family members. This case report highlights the value of an accurate family history of polycystic kidney disease in a child with these manifestations. Finding a normal sized kidney at infancy is not unusual, since the expecting incidence of kidney alteration is in the next decade of life. Presentation with hepatosplenomegaly can mislead to a late diagnosis. It is suggested that CHF should not be considered as a distinctive condition, as it can still be encountered in patients with ADKPD [24]. Due to such variability, we should emphasize the significance of a detailed family history of polycystic kidney disease in order to determine the type (dominant or recessive disease), as well as understanding other interrelated conditions.

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