title: Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.
abstract: We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.
authors.affiliation: Dipartimento Materno Infantile, University of Palermo, Via Cardinale Rampolla 1, 90142 Palermo, Italy. giuffre@unipa.it
authors.forename: Mario
authors.initials: M
authors.lastname: Giuffrè
authors.forename: Simona
authors.initials: S
authors.lastname: La Placa
authors.forename: Maurizio
authors.initials: M
authors.lastname: Carta
authors.forename: Antonella
authors.initials: A
authors.lastname: Cataliotti
authors.forename: Maria
authors.initials: M
authors.lastname: Marino
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Francesco
authors.initials: F
authors.lastname: Pusateri
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Meli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002118:Calcium / Q000652:urine*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007194:India / Q000208:ethnology; D007231:Infant, Newborn; D007621:Karyotyping; D007669:Kidney Calculi / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014463:Ultrasonography
chemical_list: D002118:Calcium