PT  - JOURNAL ARTICLE
AU  - Jameela A. Kari
AU  - Mohamed A. Shalaby
AU  - Faiza A. Qari
AU  - Amr S. Albanna
AU  - Khalid A. Alhasan
TI  - Childhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy
AID  - 10.15537/smj.2022.43.1.20210650
DP  - 2022 Jan 01
TA  - Saudi Medical Journal
PG  - 81--90
VI  - 43
IP  - 1
4099  - http://smj.org.sa/content/43/1/81.short
4100  - http://smj.org.sa/content/43/1/81.full
SO  - Saudi Med J2022 Jan 01; 43
AB  - Objectives: To study childhood nephrolithiasis and nephrocalcinosis caused by metabolic disorders, distal renal tubular acidosis (dRTA), and familial hypomagnesemia, hypercalciuria, and nephrocalcinosis (FHHNC).Methods: We retrospectively evaluated 86 children presented over 10 years (2011-2021), with nephrolithiasis (89%) and nephrocalcinosis (11%) caused by metabolic disorders (62%), FHHNC (21%), and dRTA (17%).Results: The mean age at discovery was 72.7 months. The underlying metabolic etiologies included hyperoxaluria (38%), cystinuria (32%), hypercalciuria (24%), and hyperuricosuria (6%). Genetic testing was carried out for 23 patients. Hyperoxaluria was typically treated medically (75%). However, the majority progressed to end-stage kidney disease (ESKD). Most children with cystinuria, hypercalciuria, and hyperuricosuria required medical and surgical intervention. Patients with FHHNC typically presented with nephrocalcinosis. Genetic testing revealed Claudin-16 mutations in 7 children. Patients often progressed to stage II-IV chronic kidney disease (61%) and ESKD (6%). Patients with dRTA typically presented with nephrocalcinosis (80%), as well as poor weight gain and failure to thrive (86%), and medical treatment included sodium bicarbonate and potassium replacement. Despite nephrocalcinosis progression, most patients had normal renal function (53%), although the remaining 47% progressed to chronic kidney disease (none reached ESKD).Conclusion: Childhood nephrolithiasis is mainly related to metabolic disorders and is associated with poor renal outcomes. Nephrocalcinosis and nephrolithiasis have poor outcomes when associated with FHHNC, while nephrocalcinosis associated with dRTA has relatively good renal outcomes.