Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

Area of Science:

• Genetics
• Pediatrics
• Nephrology

Background:

• Autosomal dominant polycystic kidney disease (ADKPD) is the most common inherited kidney disorder.
• ADKPD typically manifests in adulthood, with mutations in PKD1 or PKD2 genes.
• Early-onset ADKPD is rare, often presenting with non-renal symptoms.

Purpose of the Study:

• To report a rare case of early-onset ADKPD in a pediatric patient.
• To identify the genetic mutation responsible for ADKPD in the affected family.
• To emphasize the diagnostic challenges and genetic basis of ADKPD.

Main Methods:

• Clinical case presentation of a 2-year-old boy with hepatosplenomegaly and portal hypertension.
• Renal imaging to monitor kidney development and cyst formation.
• Whole exome sequencing to identify genetic mutations.
• Family-wide genetic investigation.

Main Results:

• The patient presented with hepatosplenomegaly and portal hypertension, with normal kidneys initially.
• Renal cysts typical of ADKPD developed by age 8.
• Whole exome sequencing identified a novel mutation: c.6730_673del p.(Ser 2244Hisfs*17).
• Other family members were also diagnosed with ADKPD.

Conclusions:

• This case illustrates a rare, early-onset presentation of ADKPD in a child.
• Genetic analysis is crucial for diagnosing ADKPD, especially in pediatric cases.
• Early identification of ADKPD through genetic screening can aid in family management and prognosis.