Baidya Arjun, Chowdhury Subhankar, Mukhopadhyay Satinath, Ghosh Sujoy
Department of Endocrinology, IPGMER, Kolkata, India.
Indian J Endocrinol Metab. 2012 Dec;16(Suppl 2):S402-4. doi: 10.4103/2230-8210.104108.
Renal phosphate-wasting disorders are the most common form of hereditary rickets and osteomalacia in western countries, but are rarely reported in India. Therefore, we report here a case of hypophosphatemic rickets.
To report a case of hypophosphatemic rickets presenting with recurrent pathological fractures.
A 34-year-old premenopausal lady presented with recurrent pathological fractures, bone pain, and muscle weakness since 14 years of age. A thorough history was taken followed by clinical examination, and relevant biochemical and radiological investigations were done.
Height was 125 cm, arm span 145 cm, body weight 30 kg, and body mass index (BMI) 19.2 kg/m(2). Dental caries, kyphoscoliosis, shortening of left lower limb, bilateral coxa vara deformity of knee, muscle weakness, and bone tenderness were present. Calcium was 9.4 mg/dL, phosphorus: 1.8 mg/dL, albumin: 4.0 gm/dL, alkaline phosphatase: 360 U/L, creatinine: 0.4 mg/dL, a normal ammonium chloride (NH4Cl) loading test,24-hour urine calcium excretion: 102 mg/day, 25-hydroxyvitamin D3 [25(OH)D3]: 21.6 ng/mL, intact parathyroid hormone (PTH): 43.74 pg/mL, fraction excretion of phosphate (PO4): 40%, tubular maximum reabsorption of phosphate per unit of glomerular filtrate (TmP/GFR): 0.65 mg/dL, and fibroblast growth factor (FGF)23: 321.4 RU/mL. Skeletal X-rays showed multiple old fractures and pseudofractures. Magnetic resonance imaging (MRI) of the whole body showed no evidence of tumor. Fludeoxyglucose ((18)F)-positron emission tomography (FDG-PET) computed tomography (CT) scan revealed metabolically active marrow with multiple areas of fracture and FDG-avid lesions in both lungs but no CT-based findings.
Hypophosphatemic rickets or osteomalacia, possibly hereditary, is a rare cause of recurrent pathological fractures.
肾性磷消耗性疾病是西方国家遗传性佝偻病和骨软化症最常见的形式，但在印度鲜有报道。因此，我们在此报告一例低磷血症性佝偻病病例。
报告一例以反复病理性骨折为表现的低磷血症性佝偻病病例。
一名34岁绝经前女性自14岁起出现反复病理性骨折、骨痛和肌肉无力。进行了详细的病史询问，随后进行了临床检查，并开展了相关的生化及放射学检查。
身高125厘米，臂展145厘米，体重30千克，体重指数（BMI）为19.2千克/米²。存在龋齿、脊柱侧弯、左下肢缩短、双侧膝内翻畸形、肌肉无力和骨压痛。血钙9.4毫克/分升，血磷：1.8毫克/分升，白蛋白：4.0克/分升，碱性磷酸酶：360国际单位/升，肌酐：0.4毫克/分升，氯化铵（NH4Cl）负荷试验正常，24小时尿钙排泄量：102毫克/天，25-羟维生素D3 [25(OH)D3]：21.6纳克/毫升，完整甲状旁腺激素（PTH）：43.74皮克/毫升，磷排泄分数（PO4）：40%，单位肾小球滤过率的肾小管最大磷重吸收（TmP/GFR）：0.65毫克/分升，成纤维细胞生长因子（FGF）23：321.4RU/毫升。骨骼X线显示多处陈旧性骨折和假骨折。全身磁共振成像（MRI）未发现肿瘤迹象。氟脱氧葡萄糖（(18)F）-正电子发射断层扫描（FDG-PET）计算机断层扫描（CT）显示代谢活跃的骨髓，伴有多处骨折区域以及双肺FDG摄取增高的病变，但无基于CT的发现。
低磷血症性佝偻病或骨软化症，可能为遗传性，是反复病理性骨折的罕见病因。
