Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1

Clinical and Experimental Nephrology
Naohiro KamiyoshiKazumoto Iijima

Abstract

Autosomal dominant hypocalcemia type 1 (ADH1) is a relatively rare endocrine disorder characterized by hypocalcemia and inadequate parathyroid hormone secretion. ADH is caused by activating mutations in the calcium-sensing receptor (CaSR) gene, CASR. CaSR plays a crucial role in calcium and magnesium homeostasis in the kidney. ADH may be accompanied by hypokalemia and metabolic alkalosis when it is classified as type V Bartter syndrome. However, the mechanism underlying hypokalemia in this disease is unclear. We investigated a 33-year-old woman with hypocalcemia and hypoparathyroidism since childhood, whose mother also had hypocalcemia and hypoparathyroidism, but with no clinical symptoms. Blood examinations showed hypokalemia and metabolic alkalosis in the patient, but not her mother. We conducted mutation analysis and diuretic tests to clarify the patient's and her mother's diagnosis and to investigate the onset mechanism of hypokalemia in ADH1. We also determined the localization of CaSR in the kidney by immunohistochemistry. We detected a known gain-of-function mutation in CASR in both the patient and her mother. Diuretic tests revealed a response to furosemide and no reaction to thiazide in the patient, although the mother...Continue Reading

References

Nov 10, 2001·The Journal of Clinical Endocrinology and Metabolism·A LienhardtM Garabédian
Aug 23, 2002·Journal of the American Society of Nephrology : JASN·Rosa Vargas-PoussouCorinne Antignac
Dec 24, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Bertrand DussolYvon Berland
Sep 3, 2010·The Journal of Clinical Endocrinology and Metabolism·Kandai NozuMasafumi Matsuo
Nov 19, 2010·The Journal of Biological Chemistry·Seung-Kuy ChaR Tyler Miller
May 25, 2012·Kidney International·Silvia FerrèRené J M Bindels
May 30, 2014·American Journal of Physiology. Cell Physiology·Tariq I AlfaddaJohn P Geibel

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Citations

Mar 3, 2017·Clinical and Experimental Nephrology·Tomoko HorinouchiKazumoto Iijima
Dec 3, 2016·Current Opinion in Pediatrics·Hannsjörg W SeyberthMartin Kömhoff
Jun 1, 2018·Journal of Human Genetics·Natsuki MatsunoshitaKazumoto Iijima
Dec 13, 2019·Pediatrics International : Official Journal of the Japan Pediatric Society·Kandai NozuKazumoto Iijima

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