臨牀透析 Vol.13 No.1(6)


特集名 副甲状腺機能低下症
題名 特発性副甲状腺機能低下症
発刊年月 1997年 01月
著者 古川 洋太郎 元 東北大学医学部第二内科
著者 水梨 一利 東北大学医学部第二内科
【 要旨 】 特発性副甲状腺機能低下症の病因(分類)，診断および治療につき解説した．
本症は大別して家族性副甲状腺機能低下症，種々の先天性発育異常とともに各種症候群を形成する副甲状腺機能低下症，自己免疫機序による特発性副甲状腺萎縮などがある．特発性副甲状腺萎縮は他の自己免疫疾患とともに多腺性自己免疫症候群として現れるものが多い．しかし，実際には結局病因を特定できない症例も少なくない．家族性の副甲状腺機能低下症の一部に副甲状腺ホルモン遺伝子の異常が証明されている．最近，副甲状腺細胞のCa受容体の変異による低Ca血症の家系が報告された(familial syndrome of hypocalcemia with hypercalciuria)，とくに常染色体性優性遺伝による家族性副甲状腺機能低下症では診断に注意が必要である．
長期にわたる維持治療には活性型ビタミンDが用いられるが，副甲状腺ホルモンの腎作用を補完しないので，高Ca尿が治療後の問題として残る．
Theme Hypoparathyroidism and Related Problems in Dialysis Patients
Title Idiopathic hypoparathyroidism
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.
戻る