Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?
| Autor: | Silvana Tedeschi, Sonia Ciarmatori, Giorgio Casari, Clementina Isimbaldi, Maurizio Bevilacqua, Velella Righini, Layla Cesareo, Enrico Zammarchi, Roberto Rusconi, Alberto Bettinelli, Maria Alice Donati, Rosanna Garavaglia |
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| Přispěvatelé: | Bettinelli, A, Rusconi, R, Ciarmatori, S, Righini, V, Zammarchi, E, Donati, Ma, Isimbaldi, C, Bevilacqua, M, Cesareo, L, Tedeschi, S, Garavaglia, R, Casari, GIORGIO NEVIO |
| Rok vydání: | 1999 |
| Předmět: |
Male
medicine.medical_specialty Sodium-Potassium-Chloride Symporters Vasopressins Bartter syndrome Hypocalciuria Growth hormone deficiency Empty sella syndrome Internal medicine medicine Humans Vasopressin deficiency Child business.industry Human Growth Hormone Empty Sella Syndrome Bartter Syndrome Syndrome Gitelman syndrome medicine.disease Hypertonic saline Endocrinology Kidney Tubules Vasopressin secretion Pituitary Gland Pediatrics Perinatology and Child Health Female medicine.symptom business Carrier Proteins |
| Zdroj: | Pediatric research. 46(2) |
| ISSN: | 0031-3998 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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