Display options
Cite
Choi KH, Shin CH, Yang SW, et al. Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. Korean J Pediatr. 2015;58(4):148-53doi: 10.3345/kjp.2015.58.4.148.
Choi, K. H., Shin, C. H., Yang, S. W., & Cheong, H. I. (2015). Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. Korean journal of pediatrics, 58(4), 148-53. https://doi.org/10.3345/kjp.2015.58.4.148
Choi, Keun Hee, et al. "Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C." Korean journal of pediatrics vol. 58,4 (2015): 148-53. doi: https://doi.org/10.3345/kjp.2015.58.4.148
Choi KH, Shin CH, Yang SW, Cheong HI. Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. Korean J Pediatr. 2015 Apr;58(4):148-53. doi: 10.3345/kjp.2015.58.4.148. Epub 2015 Apr 22. PMID: 25932037; PMCID: PMC4414630.
Copy Download .nbib Format: NLM
Share it on

Korean J Pediatr. 2015 Apr;58(4):148-53. doi: 10.3345/kjp.2015.58.4.148. Epub 2015 Apr 22.

Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.

Korean journal of pediatrics

Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong

Affiliations

  1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
  2. Division of Endocrinology and Metabolism, Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
  3. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. ; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea. ; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.

PMID: 25932037 PMCID: PMC4414630 DOI: 10.3345/kjp.2015.58.4.148

Abstract

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

Keywords: Autosomal dominant hypocalcemia; Bartter syndrome; Calcium-sensing receptors

References

  1. Cell. 1993 Dec 31;75(7):1297-303 - PubMed
  2. Am J Physiol. 1996 Jul;271(1 Pt 1):C103-11 - PubMed
  3. J Nephrol. 2006 Jul-Aug;19(4):525-8 - PubMed
  4. J Exp Biol. 1997 Jan;200(Pt 2):295-302 - PubMed
  5. Curr Opin Nephrol Hypertens. 2003 Sep;12(5):527-32 - PubMed
  6. N Engl J Med. 2008 Jul 24;359(4):391-403 - PubMed
  7. J Clin Endocrinol Metab. 2001 Nov;86(11):5313-23 - PubMed
  8. Am J Physiol. 1996 Sep;271(3 Pt 2):F736-43 - PubMed
  9. N Engl J Med. 1996 Oct 10;335(15):1115-22 - PubMed
  10. J Biol Chem. 1995 May 26;270(21):12919-25 - PubMed
  11. Bone. 1997 Apr;20(4):303-9 - PubMed
  12. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):628-39 - PubMed
  13. Lancet. 2002 Aug 31;360(9334):692-4 - PubMed
  14. Clin Endocrinol (Oxf). 2011 Dec;75(6):760-5 - PubMed

Publication Types