Antenatal Bartter's syndrome: why is this not a lethal condition?
| Autor: | S. Cheema-Dhadli, P. Wildgoose, Detlef Bockenhauer, M. L. Halperin, L. F. Halperin, C. K. Chong, N. Nukiwa, M. Cruwys, Mogamat Razeen Davids, Tomokazu Souma, K. S. Kamel, Robert Kleta |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Indomethacin education Diabetes Insipidus Nephrogenic Prenatal care Bartter syndrome Chlorides Hyperaldosteronism medicine Animals Humans Aquaporin 1 business.industry Sodium Infant Newborn Bartter Syndrome Infant General Medicine Nephrogenic diabetes insipidus medicine.disease Rats Surgery Bartter's syndrome Diabetes insipidus Loop of Henle Kidney Diseases business Infant Premature Rare disease Kidney disease |
| Zdroj: | QJM. 101:927-942 |
| ISSN: | 1460-2393 1460-2725 |
| Popis: | There are four themes in this teaching exercise for Professor McCance. The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic decrease in the natriuresis in response to therapy, despite the presence of a permanent molecular defect that affected the loop of Henle. Third, Professor McCance was asked why this patient seemed to have a second rare disease, AQP2 deficiency type of nephrogenic diabetes insipidus. The fourth challenge was to develop a diagnostic test to help the parents of this baby titrate the dose of indomethacin to ensure an effective dose while minimizing the likelihood of developing nephrotoxicity. The missing links in this interesting story emerge during a discussion between the medical team and its mentor. |
| Databáze: | OpenAIRE |
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