Clinical management of primary hypomagnesemia with secondary hypocalcemia
10.3760/cma.j.cn311282-20210318-00177
- VernacularTitle:原发性低镁血症伴继发性低钙血症的临诊应对
- Author:
Yongfeng HUANG
1
;
Zhuo ZHANG
;
Li YAN
;
Yan LI
;
Mingtong XU
;
Shaoling ZHANG
;
Huisheng XIAO
;
Ying GUO
;
Guojuan LAO
;
Kan SUN
Author Information
1. 中山大学孙逸仙纪念医院内分泌科，广州 510120
- Keywords:
Primary hypomagnesemia with secondary hypocalcemia;
Hypoparathyroidism;
Hypomagnesemia;
Rare disease;
TRPM6 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(3):239-243
- CountryChina
- Language:Chinese
-
Abstract:
Primary hypomagnesemia with secondary hypocalcemia(HSH) is a rare cause of hypoparathyroidism. This article presents a case of a 26-year-old male with recurrent generalized weakness and tetany, and a literature review of diagnosis and treatment of primary HSH. The biochemical tests revealed the patient had severe hypomagnesemia, mild hypocalcemia, hypokalemia, and hypoparathyroidism. Transient receptor potential melastatin-6(TRPM6) gene mutation were detected by gene test, which confirmed the diagnosis of primary HSH. The patient had been treated with long term oral magnesium supplementation, who remained asymptomatic during the follow-up. Primary HSH is a rare autosomal-recessive disorder caused by mutations in the TRPM6 gene which encoding a magnesium permeable channel expressed in the intestine and the kidney. The primary defect is impaired intestinal absorption of magnesium with secondary renal excretion, leading to a series of clinical symptoms. The treatment is mainly through lifelong magnesium supplementation.
