Kiran B Vijay, Barman H, Iyengar A
Department of Nephrology, King George Hospital/Andhra Medical College, Visakhapatnam, Andhra Pradesh, India.
Department of Paediatrics, NEIGRIHMS, Shillong, Meghalaya, India.
Indian J Nephrol. 2014 Nov;24(6):362-6. doi: 10.4103/0971-4065.133002.
Tubular disorders form a significant proportion of pediatric kidney diseases and are an important differential diagnosis of failure to thrive (FTT) in children. Data regarding their outcome is scarce from India. We evaluated the clinical profile of these children and studied the outcome in terms of their growth and renal failure. This is a retrospective longitudinal study of all children with renal tubular disorders attending a tertiary care pediatric nephrology center from 2005 to 2010. Growth and renal outcomes were assessed by Z scores and estimated glomerular filtration rate at diagnosis and. The common disorders encountered were distal renal tubular acidosis (d-RTA) (44%), Bartter-like (Bartter's and Gitelman) syndromes (22%) followed by hereditary Fanconi syndrome (cystinosis and idiopathic Fanconi syndrome) (13%) and few cases of nephrogenic diabetes insipidus, hypophosphatemic rickets and idiopathic hypercalciuria. Male: female ratio was 1.22. The median age at diagnosis was 1.5 (range 0.13-11) years. Growth failure was the presenting feature in 86% of children followed by polyuria (60%) and bone deformities (47%). In 60% of children with hereditary Fanconi syndrome, nephropathic cystinosis was diagnosed, all of whom progressed to stage III chronic kidney disease (CKD) within 3.41 ± 1.42 years. With appropriate therapy, catch-up growth was noted in d-RTA and Bartter syndrome. Renal tubular disorders usually present with FTT. d-RTA is the most common etiology followed by Bartter-like syndrome. Renal function is preserved in all these disorders except for nephropathic cystinosis, who ultimately progressed to CKD. With appropriate and inexpensive therapy, these children do grow well.
肾小管疾病在小儿肾脏疾病中占相当大的比例，是儿童生长发育迟缓（FTT）的重要鉴别诊断。来自印度的关于其预后的数据很少。我们评估了这些儿童的临床特征，并研究了他们在生长和肾衰竭方面的预后。这是一项对2005年至2010年在一家三级护理儿科肾脏病中心就诊的所有肾小管疾病儿童进行的回顾性纵向研究。通过诊断时的Z评分和估计肾小球滤过率评估生长和肾脏预后。常见的疾病有远端肾小管酸中毒（d-RTA）（44%）、巴特综合征样（巴特综合征和吉特曼综合征）（22%），其次是遗传性范科尼综合征（胱氨酸病和特发性范科尼综合征）（13%）以及少数肾性尿崩症、低磷性佝偻病和特发性高钙尿症病例。男女比例为1.22。诊断时的中位年龄为1.5岁（范围0.13 - 11岁）。生长发育迟缓是86%儿童的主要表现，其次是多尿（60%）和骨骼畸形（47%）。在60%的遗传性范科尼综合征儿童中，诊断为肾病性胱氨酸病，所有这些儿童在3.41±1.42年内进展为III期慢性肾脏病（CKD）。通过适当的治疗，在d-RTA和巴特综合征中观察到追赶生长。肾小管疾病通常表现为生长发育迟缓。d-RTA是最常见的病因，其次是巴特综合征样综合征。除了最终进展为CKD的肾病性胱氨酸病外，所有这些疾病的肾功能均得以保留。通过适当且廉价的治疗，这些儿童确实能良好生长。
