title: A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.
abstract: We describe for the first time an infant with Down syndrome and congenital nephrogenic diabetes insipidus (NDI). The 11-day-old Japanese boy was admitted with failure to thrive and fever. Polyuria (3,000-3,500 ml/m(2) per day), low urine specific gravity (1.001-1.002), and high plasma arginine vasopressin (AVP) (18.2 pg/ml) suggested NDI. Gene analysis confirmed the diagnosis of congenital NDI due to a novel mutation of the V2 receptor gene (L309P). He also had symptoms of Down syndrome and karyotype analysis of the peripheral lymphocytes revealed trisomy 21. The relationship between pyelectasis and a risk of Down syndrome is discussed.
authors.affiliation: Department of Pediatrics, Hamamatsu University School of Medicine, 431-3192 Hamamatsu, Japan.
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Fujisawa
authors.forename: Takeshi
authors.initials: T
authors.lastname: Miyamoto
authors.forename: Kyo
authors.initials: K
authors.lastname: Furuhashi
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Sano
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Nakagawa
authors.forename: Takehiko
authors.initials: T
authors.lastname: Ohzeki
mesh_terms: D018500:Diabetes Insipidus, Nephrogenic / Q000150:complications* / Q000151:congenital*; D004314:Down Syndrome / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011141:Polyuria / Q000209:etiology; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: D017483:Receptors, Vasopressin