A Novel Mutation of 33 Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the 33 encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome without arthrogryposis caused by a novel mutation of 33. A female patient of Greek origin presented on the 14 day of life with renal tubular acidosis, Fanconi syndrome, nephrogenic diabetes insipidus, and cholestasis with normal gamma-glutamyl transpeptidase, without arthrogryposis and dysmorphic features.

Urinary bladder volume and pressure at reflux as prognostic factors of vesicoureteral reflux outcome.

Background: Controversy exists as to whether the outcome of vesicoureteral reflux (VUR) can be prognosticated by direct radionuclide cystography (DRC).

Objective: To correlate the quantitative data obtained by DRC with disease outcome in infants with VUR and positive DRC 1 year after diagnosis.

Materials And Methods: The medical records of 109 children with known primary VUR diagnosed during the first year of life were studied retrospectively.