Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular- pituitary syndrome?

Alberto Bettinelli, Roberto Rusconi, Sonia Ciarmatori, Velella Righini, Enrico Zammarchi, Maria Alice Donati, Clementina Isimbaldi, Maurizio Bevilacqua, Layla Cesareo, Silvana Tedeschi, Rosanna Garavaglia, Giorgio Casari

Research output: Contribution to journalArticle

Abstract

Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy. Magnetic resonance imaging revealed an empty sella in both cases. Up to now, hypomagnesemia and hypocalciuria have been considered obligatory criteria for the diagnosis of Gitelman disease; however, our two patients had hypomagnesemia and hypocalciuria in less than half the determinations. GH replacement treatment was associated with a good clinical response in both children. It appears that these cases represent a new phenotype, not previously described in Gitelman disease, and that the entity may be considered a new complex hereditary renal tubular-pituitary syndrome.

Original languageEnglish
Pages (from-to)232-238
Number of pages7
JournalPediatric Research
Volume46
Issue number2
Publication statusPublished - Aug 1999

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Bettinelli, A., Rusconi, R., Ciarmatori, S., Righini, V., Zammarchi, E., Donati, M. A., Isimbaldi, C., Bevilacqua, M., Cesareo, L., Tedeschi, S., Garavaglia, R., & Casari, G. (1999). Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular- pituitary syndrome? Pediatric Research, 46(2), 232-238.