Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisamy
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India. Correspondence to: Dr Sriram Krishnamurthy, Additional Professor, Department of Pediatrics, JIPMER, Pondicherry 605 006, India.
Indian Pediatr. 2020 May 15;57(5):415-419. Epub 2020 Mar 12.
To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.
In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded.
The etiology of nephrocalcinosis (n=54) included distal renal tubular acidosis (n=18; 33.3%), primary hyperoxaluria (n=9; 16.7%), Bartter syndrome (n=7; 13%), Dent disease (n=4; 7.4%), cystinosis, familial hypomagnesemia with hypercalciuria and idiopathic hypercalcemia of infancy (2 each). Idiopathic nephrocalcinosis was seen in 5 (9.3%) children. Clinical features included failure to thrive (53.7%), polyuria (44.4%), bony deformities (31.5%) and hypokalemic paralysis (11.1%). At a median (IQR) follow-up of 24 (8, 56) months, the mean (SD) eGFR had improved from 59 (25.5) to 77 (31.48) mL/min/1.73m2 (P<0.01). Consanguinity was present in 50% (27/54). Genetic analysis in 5 primary hyperoxaluria cases confirmed AGXT mutations in 4; and GRHPR mutation in 1 child.
Distal RTA, primary hyperoxaluria and Bartter syndrome were the common etiologies of nephrocalcinosis in our patient population.
研究肾钙质沉着症的病因谱及临床表现模式。
在这项观察性研究中，对18岁及以下因肾钙质沉着症转诊至儿科肾脏病门诊的患者进行病因评估。记录就诊时的症状/体征、就诊及随访时的估计肾小球滤过率（eGFR）以及生长参数。
肾钙质沉着症患者（n = 54）的病因包括远端肾小管酸中毒（n = 18；33.3%）、原发性高草酸尿症（n = 9；16.7%）、巴特综合征（n = 7；13%）、丹特病（n = 4；7.4%）、胱氨酸病、家族性低镁血症伴高钙尿症和婴儿特发性高钙血症（各2例）。5名（9.3%）儿童患有特发性肾钙质沉着症。临床特征包括生长发育迟缓（53.7%）、多尿（44.4%）、骨骼畸形（31.5%）和低钾性麻痹（11.1%）。在中位（四分位间距）随访24（8，56）个月时，平均（标准差）eGFR从59（25.5）提高到77（31.48）mL/min/1.73m²（P<0.01）。50%（27/54）的患者存在近亲结婚。对5例原发性高草酸尿症病例进行基因分析，证实4例存在AGXT突变，1例儿童存在GRHPR突变。
远端肾小管酸中毒、原发性高草酸尿症和巴特综合征是我们研究人群中肾钙质沉着症的常见病因。
