Inherited salt-losing renal tubulopathies manifesting as normotensive hypokalemic metabolic alkalosis.
نویسندگان
چکیده
منابع مشابه
Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subseq...
متن کاملHypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.
OBJECTIVE To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31. METHODS We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evalu...
متن کاملGitelman syndrome: first report of genetically established diagnosis in Greece.
Gitelman syndrome is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis. It is distinguished from other hypokalemic tubulopathies, such as Bartter syndrome, by the presence of both hypomagnesemia and hypocalciuria. We report a case of Gitelman syndrome in a 10-year-old girl who presented for examination of persistent unexplained hypokalemia. She had no severe c...
متن کاملMixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter syndrome and Gitelman syndrome are autosomal recessive salt-losing tubulopathies with hypokalemia...
متن کاملRenal Potassium Handling and Associated Inherited Tubulopathies Leading to Hypokalemia
Regulation of intracellular and extracellular potassium concentration is a fundamental process vital for cellular metabolism. Potassium intake, from the diet, is carefully balanced with excretion of potassium via the renal tract and gastrointestinal losses. Following a potassium load, extra-renal buffering of potassium occurs in peripheral tissues prior to its excretion. Thus potassium regulati...
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 58 شماره
صفحات -
تاریخ انتشار 2010