HNF1B 17q12 Deletion Cystic Dysplasia — ESENeph MCQ

Correct answer: A — Congenital genital-tract and collecting-system abnormalities

The best answer is “Congenital genital-tract and collecting-system abnormalities”. GeneReviews describes cystic dysplasia and diverse congenital urinary-tract abnormalities with HNF1B haploinsufficiency, alongside genital-tract abnormalities, diabetes, pancreatic abnormalities and renal magnesium wasting. “Bilateral renal artery fibromuscular dysplasia” is less appropriate because this is not a characteristic developmental manifestation of HNF1B haploinsufficiency “Isolated anti-GBM glomerulonephritis” is less appropriate because this is an acquired autoimmune disease rather than part of the renal cysts and diabetes phenotype “Medullary sponge kidney without extrarenal features” is less appropriate because this does not explain the syndromic diabetes, hypomagnesaemia and developmental abnormalities “Autosomal recessive nephronophthisis” is less appropriate because this has a different inheritance and phenotype from the confirmed 17q12 deletion

Reference: GeneReviews: 17q12 recurrent deletion syndrome: https://www.ncbi.nlm.nih.gov/books/NBK401562/