Journal of nephrology · 2013
It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Brambilla Gianmaria, Perotti Mario, Perra Silvia, Dell'Oro Raffaella, Grassi Guido, Pincelli Angela Ida
Аннотация
BACKGROUND: We describe a 79-year-old man with biochemical and radiological features of Gitelman syndrome: hypokalemia, hypomagnesemia, hyperreninemic hyperaldosteronism in absence of secondary hyperaldosteronism causes, and chondrocalcinosis.
METHODS AND RESULTS: The diagnosis was confirmed by sequence analysis of the SLC12A3 gene showing the compound heterozygous mutation Gly439Ser and Arg1018Term. Aliskiren, a direct renin inhibitor, in combination with potassium and magnesium oral supplements was effective in ameliorating the electrolytic imbalance without any adverse effects.
CONCLUSION: This study has shown for the first time that aliskiren may represent a reliable and safe treatment as an alternative to potassium-sparing diuretics for Gitelman syndrome.
METHODS AND RESULTS: The diagnosis was confirmed by sequence analysis of the SLC12A3 gene showing the compound heterozygous mutation Gly439Ser and Arg1018Term. Aliskiren, a direct renin inhibitor, in combination with potassium and magnesium oral supplements was effective in ameliorating the electrolytic imbalance without any adverse effects.
CONCLUSION: This study has shown for the first time that aliskiren may represent a reliable and safe treatment as an alternative to potassium-sparing diuretics for Gitelman syndrome.