Retrospective evaluation of children with renal tubular disease

Objective: Renal tubular diseases (RTD) are a rare group of kidney diseases characterized by impaired acid-base balance in the body. Diagnosis is complex and late diagnosis and/or delay in effective treatment may lead to devastating complications. In this study, we retrospectively evaluated those children and aimed to compare the etiology, diagnosis, treatment and complications of them with the current literature data. Material and Method: Sixty-five children with RTD, admitted to Gaziantep University, Şahinbey Research and Practice Hospital, Department of Pediatric Nephrology and General Pediatrics between 2005 and 2015, were retrospectively evaluated. The age, gender, application complaints, parental consanguinity, presence of siblings with similar diagnosis, physical examination and laboratory findings (Urea, creatinine (Cr), uric acid, magnesium (Mg), calcium (Ca), phosphorus (P), potassium (K), chloride (Cl)], urinary Na, K, Cl, P, and Cr levels, Ca / Cr and protein / Cr ratios, oxalate, citrate levels, tubular P reabsorption (TRP), fractional excretions of Na (FeNa), K (FeK) and CL (FeCL), urinary anion gap, renal ultrasonography (USG) results, treatment and observed complications were noted. Results: Sixty-five children (35 male, 30 female) included in the study had regular follow-up after the diagnosis, and their data were enough during retrospective screening. These patients were examined in 4 groups; 14 patients with proximal renal tubular acidosis (pRTA), 27 patients with distal renal tubular acidosis (dRTA), 4 patients with type IV RTA, and 20 patients with Bartter syndrome. An average age of the patients was 4.7 ± 2.1 years, and more than 90% of them were diagnosed within the first 2 years of age. The most frequent complaints of patients were growth retardation, vomiting and polyuria. Of 65 children; 84.6% had parent consanguinity, 20% had sibling(s) with similar diagnosis, and 21.4% had sibling(s) with early death. Fifty percent of patients with Bartter syndrome had polyhydramnios and 70% had atypical face. Hearing loss was found in 29% of all patients with RTD, eye pathology in 16%, chronic renal failure (CRF) in 18%, urinary stone in 24% and nephrocalcinosis in 86%. According to the clinical and laboratory findings of the cases; mainly K citrate, neutral phosphate, sodium bicarbonate, and other necessary supportive treatments were ordered. Four of 5 patients with end-stage renal disease were on peritoneal dialysis program, while one was on hemodialysis program. Twelve of these cases had late diagnosis. Growth was better and dehydration attacks were less in early-diagnosed cases. Conclusion: There is a strong correlation between early diagnosis and effective treatment of RTD and prognosis. Several complications of these diseases, especially CRF, can be prevented by effective treatment and close follow-up. Keywords: Renal tubular disease, Bartter syndrome, nephrocalcinosis, chronic kidney disease.