Dutta Deep, Kumar Manoj, Das Ram Narayan, Datta Saumik, Biswas Dibakar, Ghosh Sujoy, Mukhopadhyay Satinath, Chowdhury Subhankar
IPGMER and SSKM Hospital, Department of Endocrinology and Metabolism, Calcutta, India. E-mail:
J Clin Res Pediatr Endocrinol. 2013;5(4):266-9. doi: 10.4274/Jcrpe.1060.
Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. Radiograms showed generalized osteopenia, widening of the distal ends of the long bones along with splaying, cupping and fraying. Biochemical evaluation revealed low serum calcium (7.8 mg/dL), low phosphorus (1.4 mg/dL), vitamin-D deficiency [25-hydroxy-vitamin-D (25(OH)D): 8.7 ng/mL], and elevated intact parathyroid hormone (PTH, 811 pg/mL). Re-evaluation due to lack of clinical improvement following vitamin-D and calcium supplementation revealed hypercalcemia 11.9 mg/dL, normal 25(OH)D 41 ng/mL, persistence of elevated PTH 632 pg/mL. A 99mTc-sestamibi scan showed increased uptake at the lower pole of the right lobe of the thyroid. A right inferior parathyroidectomy was performed. Histopathology revealed chief cell type parathyroid adenoma. Last evaluated 4 months after surgery, the bone pains and proximal weakness had resolved, with significant improvement in the patient's quality of life. Rickets in the setting of PHPT often masks the classical phenotype of PHPT. In a child with rickets, lack of improvement following vitamin-D supplementation, hypercalcemia at presentation or following vitamin-D supplementation are warning signs which necessitate further evaluation to rule out PHPT.
原发性甲状旁腺功能亢进症（PHPT）在儿童中极为罕见，更易与遗传综合征、多腺体受累及更严重的症状相关。佝偻病极少会成为儿童PHPT的首发特征。一名12岁女孩被诊断为佝偻病，她表现为身材矮小、膝外翻、踝关节外翻畸形及扁平足。X线片显示全身骨质减少，长骨远端增宽并伴有骨端张开、杯口状及毛刷样改变。生化检查显示血清钙水平低（7.8mg/dL）、磷水平低（1.4mg/dL）、维生素D缺乏[25-羟维生素D（25(OH)D）：8.7ng/mL]，且完整甲状旁腺激素（PTH，811pg/mL）升高。在补充维生素D和钙后临床症状无改善，因此进行复查，结果显示血钙过高（11.9mg/dL），25(OH)D正常（41ng/mL），PTH持续升高（632pg/mL）。99mTc-甲氧基异丁基异腈扫描显示甲状腺右叶下极摄取增加。遂行右下方甲状旁腺切除术。组织病理学检查显示为主细胞型甲状旁腺腺瘤。术后4个月进行末次评估时，骨痛和近端肌无力已消失，患者生活质量有显著改善。PHPT合并佝偻病时往往会掩盖PHPT的典型表型。对于患有佝偻病的儿童，补充维生素D后无改善、就诊时或补充维生素D后出现高钙血症，这些都是警示信号，需要进一步评估以排除PHPT。
