| Theme | Hypoparathyroidism and Related Problems in Dialysis Patients | |
|---|---|---|
| Title | Idiopathic hypoparathyroidism | |
| Publish Date | 1997/01 | |
| Author | Yohtaro Furukawa | former 2nd Department of Internal Medicine, Tohoku University of Medicine |
| Author | Kazutoshi Mizunashi | 2nd Department of Internal Medicine, Tohoku University of Medicine |
| [ Summary ] | Autosomal dominant, autosomal recessive and X-linked recessive forms of familial isolated hypoparathyroidism have been reported, and there are a variety of syndromes of hypoparathyroidism associated with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, nephropathy, sensorineural deafness and lymphedema. The molecular genetic basis of these forms of idiopathic hypoparathyroidism has been investigated, and several mutations of the parathyroid hormone gene were detected in some families with autosomal dominant or autosomal recessive familial hypoparathyroidism. Recently, a new hypocalcemic syndrome has been reported as a familial syndrome of hypocalcemia with hypercalciuria due to mutations of the calcium-sensing receptor. #This disorder must be distinguished forms hypoparathyroidism. Juvenile and adult onset froms of idiopathic hypoparathyroidism comprising part of a polyglandular autoimmune syndrome or even isolated hypoparathyroidism, autoimmune hypoparathyroidism is relatively rare in Japan. Etiology of sporadic cases of adult onset hypoparathyroidism still remains to be elucidated. |
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