Why is childhood urolithiasis increasing? Etiology, diagnosis and management: a single-center experience.

BACKGROUND: Globally, urolithiasis is becoming more and more common among children. We aimed to determine the etiology, and the diagnostic and therapeutic approaches in patients with urolithiasis. METHODS: This was a retrospective study which included all patients (aged 1 month-18 years) admitted to the pediatric nephrology clinic in Elazig Fethi Sekin City Hospital with urolithiasis between November 2019 and 2021. Only patients whose diagnosis of urolithiasis was confirmed by urinary ultrasonography were included in the study, while patients with chronic diseases (neurological diseases such as epilepsy, cerebral palsy, chronic bowel diseases, etc.) predisposing to kidney stone formation were not. Demographic characteristics, serum and urine biochemical parameters, urine metabolic and kidney stone metabolic and chemical analyses, urinary tract ultrasonography findings and treatment modalities were collected. RESULTS: One hundred ninety-seven patients (91 female and 106 male) were included in the study. Hypervitaminosis D was detected in 4 (2%) patients, suppressed parathyroid hormone in 12 (6%) and hypercalcemia in 27 (14%) patients. Metabolic screening showed hypercalciuria in 69 (35%) patients, hypocitraturia in 39 (20%), hyperoxaluria in 15 (8%) and cystinuria in 6 (3%) patients. Eighty three (42%) patients had a positive family history for kidney stones. One hundred eighteen (60%) patients received potassium citrate treatment, 71 (36%) were given hydration and diet recommendations without medical treatment, 6 (3%) received tiopronin treatment, and 2 (1%) patients were treated surgically. CONCLUSIONS: Our study suggests that Vitamin D supplementation at doses higher than 400 IU/day may be a risk factor for kidney stones in children. We observed that mothers tend not to give water to infants who are breastfed or formula-fed in the first year of life. K-citrate treatment can be a good option for prevention and dissolution of stones by alkalinization.

α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases.

Cystinuria is an autosomal recessive disorder characterized by excessive urinary excretion of cystine, resulting in recurrent cystine kidney stones, often presenting in childhood. Current treatment options for cystinuria include dietary and/or fluid measures and potassium citrate to reduce cystine excretion and/or increase solubility. Tiopronin and D-penicillamine are used in refractory cases to bind cystine in urine, albeit with serious side effects. A recent study revealed efficacy of nutritional supplement α-lipoic acid (ALA) treatment in preventing kidney stones in a mouse model of cystinuria. Here, we report 2 pediatric patients (6 and 15 years old) with cystinuria who received regular doses of ALA in addition to conventional therapy with potassium citrate. Both patients tolerated ALA without any adverse effects and had reduced frequency of symptomatic and asymptomatic kidney stones with disappearance of existing kidney stones in 1 patient after 2 months of ALA therapy. ALA treatment markedly improved laboratory markers of cystine solubility in urine with increased cystine capacity (-223 to -1 mg/L in patient 1 and +140 to +272 mg/L in patient 2) and decreased cystine supersaturation (1.7 to 0.88 in patient 1 and 0.64 to 0.48 in patient 2) without any changes in cystine excretion or urine pH. Our findings suggest that ALA improves solubility of cystine in urine and prevents stone formation in patients with cystinuria who do not respond to diet and citrate therapy.

Evaluation of urinary carnitine and taurine excretion in 5 cystinuric dogs with carnitine and taurine deficiency.

Five client owned dogs with cystinuria were diagnosed with carnitine and taurine deficiency while participating in a clinical trial that used dietary management of their urolithiasis. Stored 24-hour urine samples collected from the cystinuric dogs before enrollment in the clinical diet trial were quantitatively evaluated for carnitine and taurine. These results were compared to those obtained from 18 healthy Beagles. Both groups of dogs were fed the same maintenance diet for a minimum of 2 weeks before 24-hour urine collection. The protocol used for 24-hour urine collections was the same for cystinuric dogs and healthy Beagles except that cystinuric dogs were catheterized at baseline, 8 hours, 12 hours, and at the end of the collection, whereas Beagles were catheterized at baseline, 8 hours, and at the end of the collection. Three of 5 dogs with cystinuria had increased renal excretion of carnitine. None of the cystinuric dogs had increased renal excretion of taurine, but cystinuric dogs excreted significantly less (P < .05) taurine in their urine than the healthy Beagles. Carnitinuria has not been recognized previously in either humans or dogs with cystinuria, and it may be 1 risk factor for developing carnitine deficiency. Cystinuric dogs in this study were not taurinuric; however, cystine is a precursor amino acid for taurine synthesis. Therefore, cystinuria may be 1 risk factor for developing taurine deficiency in dogs. We suggest that dogs with cystinuria be monitored for carnitine and taurine deficiency or supplemented with carnitine and taurine.