Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

Balkan Journal of Medical Genetics : BJMG · 7 authors, 5 centres

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TL;DR

This case report describes an 8-year-old boy who presented with congenital hepatic fibrosis and portal hypertension, which was later confirmed to be an early manifestation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) through family screening and genetic testing.

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This is a case report of an 8-year-old boy referred with a 6-year history of hepatosplenomegaly. Serial abdominal ultrasonography eventually revealed numerous renal cysts, prompting family screening. Genetic testing (whole exome sequencing) identified a heterozygous pathogenic variant in the PKD1 gene, confirming ADPKD Type 1. The patient is currently healthy but requires monitoring for portal hypertension progression. The report highlights that congenital hepatic fibrosis can be an early presenting sign of ADPKD in childhood, emphasizing the importance of a detailed family history for accurate diagnosis.

STUDY TYPE

case_report

SPECIALTY

pediatrics

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ORIGINAL PAPER

PMC10230838

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

Balkan Journal of Medical Genetics : BJMG

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ABSTRACT

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.

CITATION EXPORT

L. Sila, V. Velmishi, B. Saraci et al.. Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD. Balkan Journal of Medical Genetics : BJMG. (2023). https://doi.org/10.2478/bjmg-2022-0024

AUTHORS

7 · 5 CENTRES

L. Sila, V. Velmishi, B. Saraci, E. Dervishi, S. Sila, D. Shtiza, P. Cullufi

1Pediatric department, “Mother Teresa” Hospital - Tirana, Tirana, Albania
2Service of pediatric gastroenterology, “Mother Teresa” Hospital - Tirana, Tirana, Albania
3Service of pediatric radiology “Mother Teresa” Hospital - Tirana, Tirana, Albania
4Service of pediatric anesthesiology “Mother Teresa” Hospital - Tirana, Tirana, Albania
5Service of pediatric nephrology “Mother Teresa” Hospital - Tirana, Tirana, Albania