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Application of molecular biology at the approach of Bartter's syndrome: case report
Geisilaine Soares Dos Reis1, Débora Marques de Miranda, Paula Cristina de Barros Pereira
1Universidade Federal de Minas Gerais.
Insights
Molecular biology aids in diagnosing Bartter syndrome (BS). Genetic testing identified mutations in KCNJ1, confirming BS in two sisters and enabling a diagnostic approach.
Area of Science:
- Medical Genetics
- Pediatric Nephrology
Background:
- Bartter syndrome (BS) diagnosis is challenging, often requiring extensive investigation into renal tubular diseases and metabolic disorders.
- Early symptoms include prematurity, polyhydramnios, low birth weight, polyuria, polydipsia, and failure to thrive.
Observation:
- Two sisters presented with classic symptoms suggestive of Bartter syndrome.
- Initial laboratorial exams indicated BS, but definitive diagnosis was elusive through conventional methods.
Findings:
- Homozygous mutations in exon 5 of the KCNJ1 gene (A214V substitution) were identified in both affected sisters.
- Heterozygous mutations were detected in the parents, consistent with recessive inheritance.
Implications:
- Molecular techniques, specifically genetic testing, are crucial for the definitive diagnosis of Bartter syndrome.
- A proposed molecular approach diagram can guide the rational use of genetic testing for BS diagnosis.
Abstract:
This paper aims to show the utility of molecular biology for diagnose Bartter syndrome (BS) by the case report of two sisters and to propose a diagram for the molecular approach of this syndrome. The two reported cases presented prematurity, pregnancy complicated with polyhydramnio and low birth weight. During the first year of life, children exhibited polyuria, polydipsia and failure to thrive, leading to the investigation of renal tubular diseases and innate errors of metabolism. The laboratorial exams suggested BS, but the definitive diagnostic was only obtained by the detection of homozygous mutation on the exon 5 of the gene KCNJ1, resulting in a substitution of the aminoacid alanin for valin on codon 214 (A214V) in both DNA stripes in the two sisters and a heterozygous mutation in their parents. The definitive diagnostic of BS is frequently very difficult to be obtained. Consequently, considering the reported cases, we showed the utility of molecular techniques for the definitive diagnostic of BS and we proposed a diagram for the rational use of these techniques.
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