ARPKD Genetics — ESENeph MCQ
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Correct answer: E — Biallelic PKHD1 variants causing autosomal recessive polycystic kidney disease
The best answer is “Biallelic PKHD1 variants causing autosomal recessive polycystic kidney disease”. PKHD1 encodes fibrocystin/polyductin. Collecting-duct disease and ductal-plate malformation link the renal and hepatic manifestations. “Heterozygous PKD1 variation causing autosomal dominant polycystic kidney disease” is less appropriate because the inheritance and congenital hepatic-fibrosis phenotype differ “Heterozygous HNF1B deletion causing renal cysts and maturity-onset diabetes” is less appropriate because this does not best explain the classic ARPKD hepatic phenotype “Pathogenic COL4A5 variation causing X-linked Alport syndrome” is less appropriate because COL4A5 disease is X-linked and produces a basement-membrane phenotype “TSC2 deletion causing tuberous sclerosis with renal cysts” is less appropriate because angiomyolipomas and neurologic or skin manifestations would be expected
Reference: GeneReviews: autosomal recessive polycystic kidney disease: https://www.ncbi.nlm.nih.gov/books/NBK1326/