A mosaic mutation in the clcnkb gene causing bartter syndrome: acase report

HIGHLIGHTS

  • who: Lan Zhou from the (UNIVERSITY) have published the Article: A mosaic mutation in the CLCNKB gene causing Bartter syndrome: Acase report, in the Journal: (JOURNAL)

SUMMARY

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ACRONYMS

LAY DEFINITIONS

  • Bartter syndrome: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION
  • report: Detailed account or statement or formal record of data resulting from empirical inquiry.
  • hypokalemia: Hypokalemia is a low . . .

     

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