- A Case of Adult onset Bartter Syndrome with Nephrocalcinosis
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Min Gyu Park, Tae Won Lim, Hee Taek Oh, Seung Un Song, Dong Heo, Hark Rim
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Kosin Med J. 2014;29(1):75-79. Published online December 17, 2014
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DOI: https://doi.org/10.7180/kmj.2014.29.1.75
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Abstract
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- Abstract
Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms. As a clinical and genetical heterogeneous disorder, this syndrome can be classified into two clinical variants, antenatal Bartter syndrome and classic Bartter syndrome according to the onset age. Nephrocalcinosis is common in antenatal Bartter syndrome, but is rare in classic Bartter syndrome. It can also be classified into five genetic subtypes by the underlying mutant gene, all of which are expressed in the tubular epithelial cells of the thick ascending limb of the loop of Henle. Patients with Bartter syndrome type 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. We have experienced a case of Bartter syndrome with nephrocalcinosis in a 42-year-old woman diagnosed by biochemical and radiologic studies. We had successful response with potassium chloride and spironolactone.
- A Case of Glomerulonephritis Associated with Klinefelter' Syndrome
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Jin Hyuk Cho, Yeoung Sin Sin, Eun Hee Sim, Min Gyu Park, Dong Heo, Hak Rim
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Kosin Med J. 2012;27(2):177-180. Published online December 27, 2012
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DOI: https://doi.org/10.7180/kmj.2012.27.2.177
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Abstract
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Klinefelter' syndrome is a disorder of sexual differentiation in males, characterized by the presence of two or more X-chromosomes, hypogonadism, and lack of secondary sexual characteristics. The association between Klinefelter' syndrome and glomerulonephritis has been reported, while cases of glomerulonephritis associated with Klinefelter' syndrome are rare. We report the Korean case: a 31-year-old man with Klinefelter' syndrome who developed glomerulonephritis. The patient's urine analysis shows microscopic hematuria and the result of kidney biopsy was minimal change disease. The onset and course of his disease might have been influenced by the sex hormone imbalance.
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