P429 Gitelman Syndrome – Report of the first pediatric patient from Macedonia. (June 2019)

• Record Type: Journal Article
• Authors: Janchevska, Aleksandra; Tasic, Velibor; Jordanova, Olivera; Gucev, Zoran; Ashton, Emma; Bockenhauer, Detlef
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A324
• Page End: A324
• Publication Date: 2019-06
• Subjects: Gitelman syndrome -- hypokalemia -- hypomagnesemia -- hypocalciuria -- pathogenic variant; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.765
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Background and aims: Gitelman syndrome (GS) is a rare renal channelopathy with an autosomal recessive type of inheritance, caused by homozygous or compound heterozygous mutations in SLC12A3 gene. The disorder causes metabolic abnormalities and may be overlapped with Barter type 3 syndrome. Methods: A 7 year-old boy presented with a history of several episodes of carpopedal spasms and muscle aches in the last few months. The boy has been a relatively healthy child previously. His auxological parameters were within normal range for his sex and age. Diagnostic assessment was achieved by characteristic symptoms, imaging technics, biochemical, hormonal and molecular analyses. Results: The biochemical analyses revealed hypokalemia (3.0–3.4 mmol/l), hypomagnesemia (0.64–0.66 mmol/l), hypocalciuria (<0.79 mg/kg/d) without metabolic alkalosis. The parathyroid and thyroid hormones were within reference range. The measured Q-T interval (0.36 sec) in the electrocardiogram was also within normal range. No abnormalities were found in the audiogram and the electroencephalogram. The molecular analyses have shown that the patient was heterozygous for the SLC12A3 c.1805_1806del and c.2660+1G>A pathogenic variants and also heterozygous for the SLC12A3 c.2944 A>T (p.Ile982Phe) likely pathogenic variant. His mother was a heterozygous for the c.2944 A>T (p.Ile982Phe) mutation, but his father was heterozygous for the other 2 variants ( SLC12A3 c.1805_1806del and c.2660+1G>A). Conclusions: Herein we present a first child from Macedonia with clinical manifestations and electrolyte imbalances typical for a GS. The results of the molecular analyses were consistent with the diagnosis of GS. The boy is on a high salt diet and oral potassium and magnesium supplements.