Özkan Behzat, Çayır Atilla, Koşan Celalettin, Alp Handan
Atatürk University, Department of Pediatric Endocrinology, Erzurum, Turkey.
J Clin Res Pediatr Endocrinol. 2011;3(2):101-4. doi: 10.4274/jcrpe.v3i2.21. Epub 2011 Jun 8.
A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.
一名五岁男孩因生长发育迟缓、头痛、间歇性高热、烦躁不安、多尿和烦渴被转诊至我们的儿科诊所。他的体重和身高测量值均低于第3百分位。临床检查发现包括前额突出、龋齿、下肢O型腿畸形和中度脱水。代谢性碱中毒、低钾血症、低氯血症以及高肾素和醛固酮水平提示巴特综合征，并开始了针对巴特综合征的治疗方案。随访时发现多尿和低钠血症持续存在。对该患者的重新评估发现了与近端肾小管酸中毒一致的表现，如代谢性酸中毒伴高尿pH值、蛋白尿、伴有磷尿症的氨基酸尿和高钙尿症。基于父母近亲结婚以及多尿、蛋白尿、磷的肾小管重吸收降低、全身性氨基酸尿、皮肤和头发淡黄色等情况，确诊为胱氨酸病，角膜裂隙灯检查显示胱氨酸晶体沉积进一步证实了这一诊断。我们的病例是一个很好的例子，表明代谢性碱中毒的出现并不排除胱氨酸病，并且应对患者的所有检查结果进行全面评估。
