Seikaly M, Browne R, Baum M
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA.
Pediatrics. 1996 Jan;97(1):91-3.
X-linked hypophosphatemia is characterized clinically by rickets and growth retardation. Therapy of this disorder with phosphate and vitamin D often produces nephrocalcinosis. The long-term effects of nephrocalcinosis on renal function in patients with X-linked hypophosphatemia are unknown. The purpose of this study was to evaluate the prevalence of glomerular and tubular disorders in patients with X-linked hypophosphatemia who developed nephrocalcinosis.
The creatinine clearance and the prevalence of renal tubular acidosis were compared in 19 patients with X-linked hypophosphatemia and nephrocalcinosis with 15 patients with X-linked hypophosphatemia without nephrocalcinosis.
Sixteen of the 19 patients (84%) with nephrocalcinosis had a hyperchloremic metabolic acidosis compared with one of the 13 patients without nephrocalcinosis (P < .01). The serum bicarbonate of patients with nephrocalcinosis was 20.0 +/- 0.7 as compared to 24.5 +/- 0.6 mmol/L in patients without nephrocalcinosis (P < .01). The urinary anion gap was positive in all patients with acidosis (+62.1 +/- 13.3 mmol/L). The creatinine clearance was 125 +/- 6 mL/min/1.73 m2 in patients with nephrocalcinosis and 124 +/- 7 mL/min/1.73 m2 in those without nephrocalcinosis.
Therapy of X-linked hypophosphatemia is often associated with nephrocalcinosis. Nephrocalcinosis is associated with renal tubular acidosis in patients with X-linked hypophosphatemia.
X连锁低磷血症的临床特征为佝偻病和生长发育迟缓。用磷酸盐和维生素D治疗这种疾病常导致肾钙质沉着症。肾钙质沉着症对X连锁低磷血症患者肾功能的长期影响尚不清楚。本研究的目的是评估发生肾钙质沉着症的X连锁低磷血症患者中肾小球和肾小管疾病的患病率。
比较19例患有X连锁低磷血症和肾钙质沉着症的患者与15例无肾钙质沉着症的X连锁低磷血症患者的肌酐清除率和肾小管酸中毒的患病率。
19例有肾钙质沉着症的患者中有16例（84%）发生高氯性代谢性酸中毒，而13例无肾钙质沉着症患者中有1例发生（P <.01）。有肾钙质沉着症患者的血清碳酸氢盐为20.0±0.7，而无肾钙质沉着症患者为24.5±0.6 mmol/L（P <.01）。所有酸中毒患者的尿阴离子间隙均为正值（+62.1±13.3 mmol/L）。有肾钙质沉着症患者的肌酐清除率为125±6 mL/min/1.73 m²，无肾钙质沉着症患者为124±7 mL/min/1.73 m²。
X连锁低磷血症的治疗常与肾钙质沉着症相关。肾钙质沉着症与X连锁低磷血症患者的肾小管酸中毒有关。
