Clinical profile and outcome of renal tubular disorders in children: A single center experience

Abstract

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.

Diagnosis, Treatment, and Outcomes in Children With Congenital Nephrogenic Diabetes Insipidus: A Pediatric Nephrology Research Consortium Study

“…There has been limited reporting of CKD in children with NDI, though CKD has been reported in other tubular disorders due to complications such as nephrocalcinosis and non-steroidal anti-inflammatory drug toxicity (9,10). In 2018, Sharma et al reported a single center experience with NDI in 33 children.…”

Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen

“…However, a report in 2008 showed its incidence was about 1/1,00,000 ( 7 ). Based on the different underlying disease causing genes, Bartter syndrome was classified into five types with mutations in SLC12A1, KCNJ1, CLCNKB, BSND , and CASR identified to date ( 8 ) (Table 1 ).…”

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome

“…More importantly, reports assessing the prevalence of chronic kidney disease (CKD) in patients with salt-losing tubulopathies are scarce and fragmented, mostly due to the rarity of the diseases and the lack of dedicated long-term assessment. CKD has been reported in patients with BS with extremely variable rates (0–27%), likely because of variable lengths of follow-up and different genotyping strategies [ 19 , 20 , 21 ]. Conversely, only a few reports accounted for the risk of CKD in patients with GS [ 22 , 23 ].…”