Piechowiak H, Gröbner W, Kremer H, Pongratz D, Schaub J
Klin Wochenschr. 1981 Nov 2;59(21):1195-9. doi: 10.1007/BF01721214.
A patient with the clinical features of pseudohypoparathyroidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
本文描述了一名具有假性甲状旁腺功能减退临床特征且血清肌酸激酶(CK)和乳酸脱氢酶(LDH)浓度升高的患者,其在成功治疗后恢复正常。该患者不存在肌病的临床体征。取自胫前肌的活检材料在显微镜下显示正常。生化分析显示磷酸化酶a活性降低,而总磷酸化酶活性(a和b)在正常范围内。文中讨论了这些发现的意义以及可能的发病机制。