Neonatal polycystic kidney disease: a novel variant.

doi:10.1136/bcr-2021-242991

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Article

Neonatal polycystic kidney disease: a novel variant.

BMJ case reports - 21 Jul 2021

Finnegan Catherine, Murphy Claire, Breathnach Fionnuala

Abstract excerpt

Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance-autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. During the...

Topics

Alleles
Female
Genetic Testing
Humans
Infant
Infant, Newborn
Kidney
Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Recessive
Pregnancy

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Identifiers

PMID: 34290017
DOI: 10.1136/bcr-2021-242991
PMCID: PMC8296790

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