TWO CASES OF FAMILIAL IDIOPATHIC HYPOPARATHYROIDISM
Yukiko IdeTakao YOSHIWARAMasatoshi WatanabeJunichi YokoyamaYoichi SakamotoYoshihisa WatanabeMasakazu Abe
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Abstract:
特発性副甲状腺機能低下症の同胞発症例(兄と弟)について報告した.症例1 (兄): 27歳,大工.腰背部の筋肉痛と痙〓発作を主訴に2回の入院.第2回目入院時の血清Ca 2.5mEq/l, P 4.8mg/dl, Ellsworth-Howard試験陽性などより特発性副甲状腺機能低下症と診断した.症例2 (弟): 21歳,電気店勤務.痙〓発作を主訴に入院.兄と同様に血清Ca 2.9mEq/l, P 5.2mg/dl, Ellsworth-Howard試験陽性などより特発性副甲状線機能低下症と診断した.さらに皮膚のCafe-au-lait spotsを伴う広範な色素沈着,二分脊椎がありvon Recklinghausen病の合併と診断した. 2症例とも低Ca血症に伴う痙〓発作と大脳の基底核の石灰化像(CT-scanにて証明)がみられたが,外胚葉系の異常や白内障はなく,心電図の異常所見もなかつた.兄の例では,脳波の異常所見と血清CPKおよびLDHの高値がみられた. 2症例とも, Ca剤と1α-OH vitamin D3の投与により症状消失,検査成績の正常化がみられた.本疾患の病因はいまだ不明であるが,自己免疫異常の関与が考えられている.本症でも,父方の伯母に慢性甲状腺炎がみられた.一方,特発性副甲状腺機能低下症家族内発症例では,遺伝性疾患を合併するという報告が多く,本報告の弟の症例にvon Recklinghausen病の合併がみられた.さらに家族歴から,遺伝形式としては常染色体優性遺伝が疑われた.Keywords:
Hypoparathyroidism
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