Taylor Harris C, Elbadawy Emad H
Fairview Hospital and Cleveland Clinic Health System, Cleveland, Ohio 44111, USA.
Endocr Pract. 2006 Sep-Oct;12(5):559-67. doi: 10.4158/EP.12.5.559.
To describe a unique example of renal tubular acidosis type 2 (RTA 2) in conjunction with Fanconi's syndrome and osteomalacia consequent to vitamin D and calcium deficiency in an adult without underlying gastrointestinal disease.
We review the clinical, hormonal, histomorphometric, and micro-computed tomographic findings and the response to therapy with vitamin D and calcium in our patient.
On admission, a 33-year-old African American woman had the following laboratory findings: serum ionized calcium 3.8 mg/dL (0.95 mmol/L), venous pH 7.26, bicarbonate 20 mEq/L, chloride 111 mEq/L, alkaline phosphatase 1,192 U/L (20.26 microkat/L) (normal, 40 to 136 U/L), 25-hydroxyvitamin D <5 ng/mL (<12 nmol/L) (normal, 10 to 60 ng/mL), parathyroid hormone 1,620 pg/mL (165.2 pmol/L) (normal, 10 to 60 pg/mL), aldosterone 68.4 ng/dL (1,894.7 pmol/L) (normal, 4.5 to 35.4 ng/dL), supine plasma renin activity 19.8 ng/mL per hour (5.35 ng/L per second) (normal, 0.5 to 1.8 ng/mL per hour), and aminoaciduria. A lumbar spine bone density T-score was -4.6, and a femoral neck T-score was -4.9. An undecalcified tetracycline-labeled bone biopsy specimen showed severe osteomalacia, severe osteoporosis, and peritrabecular fibrosis. A small intestinal biopsy revealed normal findings. Results of an ammonium chloride loading test and a bicarbonate infusion test were consistent with RTA 2. After 24 months of vitamin D and calcium therapy, results of serum and urine chemistry studies and bicarbonate infusion normalized. The lumbar spine T-score improved to -2.0, and the femoral neck T-score improved to -2.7. Bone biopsy specimens demonstrated resolution of the osteomalacia.
Nutritional vitamin D and calcium deficiency may cause RTA 2, Fanconi's syndrome, and osteomalacia in adults as well as in children.
描述一例独特的2型肾小管性酸中毒（RTA 2）合并范科尼综合征及骨软化症的病例，该病例发生在一名无潜在胃肠道疾病的成年人身上，病因是维生素D和钙缺乏。
我们回顾了该患者的临床、激素、组织形态计量学和微计算机断层扫描结果，以及对维生素D和钙治疗的反应。
入院时，一名33岁的非裔美国女性有以下实验室检查结果：血清离子钙3.8mg/dL（0.95mmol/L），静脉血pH值7.26，碳酸氢盐20mEq/L，氯111mEq/L，碱性磷酸酶1192U/L（20.26微卡特/L）（正常范围40至136U/L），25-羟维生素D<5ng/mL（<12nmol/L）（正常范围10至60ng/mL），甲状旁腺激素1620pg/mL（165.2pmol/L）（正常范围10至60pg/mL），醛固酮68.4ng/dL（1894.7pmol/L）（正常范围4.5至35.4ng/dL），仰卧位血浆肾素活性19.8ng/mL per hour（5.35ng/L per second）（正常范围0.5至1.8ng/mL per hour），以及氨基酸尿。腰椎骨密度T值为-4.6，股骨颈T值为-4.9。未脱钙的四环素标记骨活检标本显示严重骨软化症、严重骨质疏松症和骨小梁周围纤维化。小肠活检结果正常。氯化铵负荷试验和碳酸氢盐输注试验结果与RTA 2相符。经过24个月的维生素D和钙治疗后，血清和尿液化学研究结果以及碳酸氢盐输注恢复正常。腰椎T值改善至-2.0，股骨颈T值改善至-2.7。骨活检标本显示骨软化症得到缓解。
营养性维生素D和钙缺乏可能导致成人以及儿童发生RTA 2、范科尼综合征和骨软化症。
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