Two novel mutations in theCLCNKBgene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy
| Autor: | Binh T Le, Tien Q Nguyen, Cuong Minh Duong, Chi-Bao Bui |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty medicine.diagnostic_test business.industry 030232 urology & nephrology Metabolic alkalosis Renal function General Medicine medicine.disease Bartter syndrome Hyperaldosteronism 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Focal segmental glomerulosclerosis Polyuria medicine Enalapril medicine.symptom business Genetic testing medicine.drug |
| Zdroj: | BMJ Case Reports. 13:e233872 |
| ISSN: | 1757-790X |
| Popis: | Classic Bartter syndrome is a rare condition caused by mutations in theCLCNKBgene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child’s sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope and hypertension, but normal growth and development. All common causes of hypertension were ruled out. Genetic testing found two novel mutations in theCLCNKBgene, that is, Ser12Ala (exon 2) and Glu192Ter (exon 6). His estimated glomerular filtration rate was 61 mL/min/1.73 m2and a kidney biopsy showed focal segmental glomerulosclerosis. He was well managed with long-term enalapril therapy instead of non-steroidalanti-inflammatory drugs which are recommended in managing the increased prostaglandin E2 production in Bartter syndrome. Paediatricians should be alerted with the variability in its presentation. To preserve the kidney function, treatment must include preventing factors damaging the kidneys. |
| Databáze: | OpenAIRE |
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