Phenotypic variability in Bartter syndrome type I
| Autor: | Carla Navone, Milvia Cecconi, Michele Sacco, Gianpaolo Grumieri, Cristina Curcio, Alberto Bettinelli, Augusto Rosini, Giuseppe Ruffa, Giovanna Leozappa, Silvana Tedeschi, Aldo Claris Appiani, Sonia Ciarmatori, Giorgio Casari, Layla Cesareo, Silvana Binda, Marie Louise Syren, Bruno Mercuri |
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| Přispěvatelé: | Bettinelli, A, Ciarmatori, S, Cesareo, L, Tedeschi, S, Ruffa, G, Appiani, Ac, Rosini, A, Grumieri, G, Mercuri, B, Sacco, M, Leozappa, G, Binda, S, Cecconi, M, Navone, C, Curcio, C, Syren, Ml, Casari, GIORGIO NEVIO |
| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty Alkalosis endocrine system diseases Sodium-Potassium-Chloride Symporters Molecular Sequence Data Metabolic alkalosis Mutation Missense Gene mutation urologic and male genital diseases Bartter syndrome Gastroenterology Hyperchloremia Renal tubular dysfunction Internal medicine medicine Humans Hypercalciuria Amino Acid Sequence Child business.industry Bartter Syndrome Infant medicine.disease Endocrinology Phenotype Nephrology Child Preschool Pediatrics Perinatology and Child Health Female Nephrocalcinosis business Carrier Proteins |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0931-041X |
| Popis: | Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with hypercalciuria and nephrocalcinosis, we identified new mutations consistent with a loss of function of the mutant allele of the BSC gene in five. Three of the five cases with BSC gene mutations were unusual due to the absence of hypokalemia and metabolic alkalosis in the first years of life. The diagnosis of incomplete distal renal tubular acidosis was considered before molecular evaluation. Three additional patients with hypokalemia and hypercalciuria. but without nephrocalcinosis in the first two and with metabolic acidosis instead of alkalosis in the third, were studied. Two demonstrated the same missense mutation A555T in the BSC gene as one patient of the previous group, suggesting a single common ancestor. The third patient presented with severe hypernatremia and hyperchloremia for about 2 months, and a diagnosis of nephrogenic diabetes insipidus was hypothesized until the diagnosis of Bartter syndrome type I was established by molecular evaluation. We conclude that in some patients with Bartter syndrome type I, hypokalemia and/or metabolic alkalosis may be absent in the first years of life and persistent metabolic acidosis or hypernatremia and hyperchloremia may also be present. Molecular evaluation can definitely establish the diagnosis of atypical cases of this complex hereditary tubular disorder, which, in our experience, may exhibit phenotypic variability. |
| Databáze: | OpenAIRE |
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