descriptionPublicationkeyboard_double_arrow_right Article 13 May 2014 Italy English Publisher:Walter de Gruyter GmbHJournal:Journal of Pediatric Endocrinology and Metabolism, volume 27, pages 971-975 (issn: 0334-018X, eissn: 2191-0251,

Authors: BRUGNARA, Milena; GAUDINO, Rossella; Tedeschi S; Syrèn ML; Perrotta S; Maines E; ZAFFANELLO, Marco;

doi: 10.1515/jpem-2014-0052

pmid: 24825090

handle: 11562/726762 , 11591/182348

Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus

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Abstract

Abstract We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient’s phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

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Italy

Related Organizations

University of Milan
Italy
University of Verona
Italy
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Italy
University of Campania "Luigi Vanvitelli"
Italy

Keywords

Diabetes Insipidus, Neurogenic, Male, Bartter Syndrome, Humans, Infant, Solute Carrier Family 12, Member 3, Gitelman syndrome; Diabetes insipidus, Gitelman Syndrome

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