Patra Soumya, Nadri Gulnaz, Chowdhary Harish, Pemde Harish K, Singh Varinder, Chandra Jagdish
Department of Pediatrics, Kalawati Saran Children's Hospital and Lady Hardinge Medical College, New Delhi, India.
Indian J Endocrinol Metab. 2011 Oct;15(4):331-3. doi: 10.4103/2230-8210.85596.
Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.
范科尼综合征是近端肾小管细胞多种肾小管功能障碍的综合征,可单独出现或与多种遗传性(原发性)或获得性(继发性)疾病相关。其特征为氨基酸尿、血糖正常性糖尿、无血尿的肾小管蛋白尿、无阴离子间隙的代谢性酸中毒以及磷、钙、尿酸、碳酸氢盐、钠、钾和镁的尿排泄过多。而尿崩症是集合管的疾病,儿童主要表现为脱水和高钠血症。尽管迄今为止报道的所有病例均继发于药物、骨髓瘤、血液系统疾病等,但我们报告了首例表现为抗维生素D佝偻病的儿童特发性范科尼综合征合并肾性尿崩症。医学文献检索未发现任何与特发性范科尼综合征相关的肾性尿崩症病例。我们推测肾性尿崩症可能是由于严重低钾血症导致肾小管功能障碍所致。