Een bijzondere vorm van het syndroom van Bartter: een gestoorde functie van het romk-kaliumkanaal
Autor: | L. A. H. Monnens |
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Rok vydání: | 2006 |
Předmět: |
medicine.medical_specialty
endocrine system diseases Hyperkalemia business.industry nutritional and metabolic diseases urologic and male genital diseases female genital diseases and pregnancy complications Hypokalemia Endocrinology Internal medicine Pediatrics Perinatology and Child Health medicine ROMK In patient medicine.symptom business |
Zdroj: | Tijdschrift voor kindergeneeskunde. 74:65-68 |
ISSN: | 1875-6840 0376-7442 |
DOI: | 10.1007/bf03061607 |
Popis: | A patient suffering from Bartter's syndrome due to a mutation in romk is presented. Striking in patients with a romk mutation is their hyperkalemia during the neonatal period. This is followed by the appearance of the classical hypokalemia later in infancy. The initial hyperkalemia is due to the role of romk in the secretion of potassium during the neonatal period. The combination of polyhydramnion and neonatal hyperkalemia points to a defect in romk. |
Databáze: | OpenAIRE |
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