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Duplex kidneys occur in 0.8% of the general population, many of whom are asymptomatic. Children with duplex kidneys may be prone to urinary tract infections because of vesico-ureteric reflux or obstruction. Surgical management is usually required once symptoms occur. Increasing numbers of duplex kidneys are now prenatally diagnosed by ultrasound, resulting in the development of early postnatal strategies to try and reduce morbidity.

Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.

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