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

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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Bettinelli A,Rusconi R,Ciarmatori S,Righini V,Zammarchi E,Donati MA,Isimbaldi C,Bevilacqua M,Cesareo L,Tedeschi S,Garavaglia R,Casari G

doi

10.1203/00006450-199908000-00017

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

232-8

issue

2

eissn

0031-3998

issn

1530-0447

journal_volume

46

pub_type

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