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논문분류	춘계학술대회 초록집
제목	Hypokalemic alkalosis in Two Patients with Klinefelter or Russel-Silver Syndrome
저자	*Se jin PARK1, Ki soo PAI2, Jae il SHIN3
출판정보	2017; 2017(1):
키워드	bartter syndrome; Klinefelter syndrome; Russel-Silver syndrome.
초록	Case Study : Bartter syndrome (BS), first described by Dr. Frederic Bartter and Dr. Pacita Pronove in 1960, is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (metabolic alkalosis), and normal to low blood pressure with hyperreninemic hyperaldosteronism. There are two types of BS: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of BS, which has SLC12A3 mutation and sodium-chloride symporter defect. BS can also be divided into different subtypes based on the genes involved: type 1, SLC12A2 (NKCC2); type 2, ROMK/KCNJ1; type 3, CLCNKB; type 4, BSND; and type 5, CASR mutation. These mutations of genes encoding proteins that transport ions across renal cells, specifically, mutations involving the Na-K-Cl cotransporter, result in decreased sodium, potassium, and chloride reabsorption in the thick ascending limb of the nephron and lead to the presentation of BS. To reduce potassium loss, potassium supplements should be required while patients are encouraged to take liberal amounts of sodium and potassium in their diet. Indomathacin can be used as well, particularly in patients with neonatal BS. The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with Classic BS may improve growth and neurointellectural development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease. Early treatment of the electrolyte imbalances can lead to the good prognosis for patients with Classic BS. Little information exists about the association between BS and Klinefelter syndrome (KS) or between BS and Russel-Silver syndrome (RSS). We hereby report two BS patients with KS or RSS.
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