Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
复制标题
散发性 1b 型假性甲状旁腺功能减退症伴无症状低钙血症。
作者：
Goto M;Sano S;et al
假性甲状旁腺功能减退症1b型（PHP‐1b）通常诊断为各种低钙血症症状。以前的研究报道了一些常染色体显性遗传模式PHP-1b的病例，这些病例在家族分析中被鉴定为无症状性低钙血症。在此，我们报告一例6岁男性患者，术前检查时偶然发现散发性PHP‐1b。他既没有奥尔布赖特遗传性骨营养不良的特征性发现，也没有手足抽搐的证据。根据临床观察和实验室检查诊断为散发性PHP‐1b。此外，使用甲基化特异性多重连接依赖性探针扩增的基因检测表明广泛的甲基化异常，并证实了PHP-1b的散发形式。当仅根据明确的临床特征进行诊断时，散发性PHP‐1b可能经常被忽视。为了避免这种情况，即使在没有明确临床特征的情况下，也应该进行DNA测序和甲基化分析。
Pseudohypoparathyroidism type 1b (PHP‐1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP‐1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6‐year‐old male patient with sporadic PHP‐1b incidentally detected on preoperative examination. He had neither characteristic findings of Albright hereditary osteodystrophy nor evidence of tetany. Sporadic PHP‐1b was diagnosed on the basis of clinical observation and laboratory examination. In addition, genetic testing using methylation‐specific multiplex ligation‐dependent probe amplification indicated broad methylation abnormalities and confirmed the sporadic form of PHP‐1b. Sporadic PHP‐1b might often be overlooked when diagnosis is done simply on definitive clinical features. To avoid this, DNA sequencing and methylation analysis should be performed even in the absence of definitive clinical features.