근무력증과 왜소증을 동반한 Bartter syndrome 1례 |
김인성, 강주형, 신윤혜, 이동국, 김순남, 배기수 |
1아주대학교 의과대학 소아과학교실 2아주대학교 의과대학 소아과학교실 3아주대학교 의과대학 소아과학교실 4아주대학교 의과대학 소아과학교실 5아주대학교 의과대학 소아과학교실 6아주대학교 의과대학 소아과학교실 |
A Case of Bartter Syndrome with Muscle Weakness and Short Stature |
In-Sung Kim, Ju-Hyung Kang, Yun-Hei Shin, Dong-Kuk Lee, Soon-Nam Kim, Ki-Soo Pai |
1Department of Pediatrics, Ajou University, School of Medicine 2Department of Pediatrics, Ajou University, School of Medicine 3Department of Pediatrics, Ajou University, School of Medicine 4Department of Pediatrics, Ajou University, School of Medicine 5Department of Pediatrics, Ajou University, School of Medicine 6Department of Pediatrics, Ajou University, School of Medicine |
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ABSTRACT |
Bartter syndrome is a rare disorder characterized by the association of hypokalemic hypochloremic metabolic alkalosis, hyperreninemia, hyperaldosteronemia, short stature and nephrocalcinosis. This disorder presents with hyperplasia of juxtaglomerular apparatus on renal biopsy. We experienced a case of late-onset Bartter syndrome with nephrocalcinosis in a 9-year-old boy, whose chief pictures were muscle weakness, short stature, persistent sterile pyuria and microscopic hematuria. We report this case with a brief review of related literatures. |
Key words:
Nephrocalcinosis | Muscle weakness | Short stature | Bartter syndrome | Hypokalemia |
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