1212 Gitelman Syndrome in a Spanish Gypsy Paediatric Patient Mutation Intron 9 +1G>T
نویسندگان
چکیده
منابع مشابه
Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.
BACKGROUND Gitelman syndrome is a primary tubular disorder causing hypokalaemic metabolic alkalosis with hypocalciuria. Its prevalence is high in Gypsies, who harbour an identical mutation, intron 9 + 1 G>T, in the SLC12A3 gene. METHODS To better define the Gitelman syndrome in Gypsies, the clinical and biochemical features of 34 Spanish paediatric Gypsy patients were analysed. At diagnosis, ...
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Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did ...
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Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to...
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Bartter syndrome can manifest in three different forms and is rarely concomitant with glomerular nephropathies. However, this association is more frequently observed in children. We report the case of a 50-year-old woman with Gitelman syndrome for the past 30 years who also had a nephrotic syndrome of recent appearance. Her renal biopsy revealed hyperplasia of the juxtaglomerular apparatus and ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2012
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2012-302724.1212