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.

Vitamin D Insufficiency in Children with Chronic Neurological Diseases: Frequency and Causative Factors.

Objective: Vitamin D insufficiency/rickets is a metabolic bone disease that leads to insufficient mineralization of bone. Chronic neurological diseases, including cerebral palsy (CP), convulsive disorders, neural tube defects, myopathy, immobility, lack of sun exposure, inadequate nutrition, and antiepileptic drugs (AEDs) can cause vitamin D insufficiency and osteopenia in children. Materials & Methods: In this study, the authors searched the frequency and causative factors of vitamin D insufficiency in children with chronic neurological diseases such as CP, hypoxic-ischemic encephalopathy, mental motor retardation, epilepsy, neurodegenerative and neuromuscular diseases, meningitis-encephalitis sequelae, neural tube defects, paralysis, and paresis. This cross-sectional study included 108 children (forty-five (41.6%) females; sixty-three (58.4%) males), aged between one and 18 years with chronic neurological diseases, and a control group of thirty age-matched healthy children (16 (53.3%) females; 14 (46.7%) males. Results: Vitamin D levels were significantly lower, and parathyroid hormone (PTH) levels were significantly higher in the patient group than in the control group (p<0.05). The patient group was divided into four subgroups: (i) Epilepsy (n=41; 38%), (ii) Neural tube defects (n=14; 13%), (iii) CP (n=21; 19%), and (iv) other diseases (neurodegenerative and neuromuscular diseases, meningitis sequelae, intracranial hemorrhage, psychomotor retardation, hypoxic-ischemic. encephalopathy) (n=32; 30%) to identify any differences in the measured levels. In the patient group, eighty-three (76.9%) had vitamin D deficiency, and 17 (15.7%) had vitamin D insufficiency, while in the control group, twenty-one (70%) had vitamin D insufficiency. The use of AEDs had no significant effect on serum Ca, P, ALP, PTH, or vitamin D levels (p>0.05), and serum Ca levels were significantly higher in ambulant patients than in non-ambulant patients (p<0.05). Vitamin D levels were significantly higher in the non-ambulant than in the ambulant patients (p<0.05). No rickets was determined in the control group, while in the patient group, nine (8.3%) had level-1 rickets, six (5.6%) had level-2 rickets, and two (1.9%) had level-3 rickets. Conclusion: Children with chronic neurological diseases have low serum vitamin D levels, and vitamin D prophylaxis is essential in this group.

Role of Transabdominal Ultrasonography in the Evaluation of Pediatric Patients With Daytime Wetting: A Single-Center Pilot Study.

OBJECTIVES: Urinary incontinence (UI) is a frequent cause of admission to pediatric nephrology outpatient clinics. The aim of this study was to determine whether anatomical changes in lower urinary tract structures (retrovesical angulation [RVA] and bladder neck position [BNP]) are associated with UI in pediatric patients with daytime-wetting in comparison to healthy children. METHODS: In this prospective study, patients with daytime UI diagnosed using the Dysfunctional Voiding Symptom Score of the International Children's Continence Society and 3-day-voiding/bowel diary were compared with an age- and sex-matched control group without incontinence. In addition to routine clinical evaluation, RVA and BNP were measured at rest using transabdominal ultrasound (TA-US). Intra-rater agreement was estimated. RESULTS: A total of 88 children were included in the study, with 44 children (22 boys, 22 girls) each in patient and control groups. RVA was significantly greater and BNP was significantly lower in the patient group versus control group (RVA: 134.30 ± 10.05 vs 127.94 ± 13.15, P = .013; BNP: 11.88 ± 4.53 vs 17.20 ± 5.55, P < .001, respectively). Irrespective of the presence of incontinence, girls had a significantly greater RVA than boys (P < .001). However, there was no difference between sexes in BNP values (P = .630). Intra-rater agreement was very strong for RVA (P < .001, r = .897), and strong for BNP (P < .001, r = .774). CONCLUSIONS: TA-US imaging is a non-invasive and practical procedure routinely performed in pediatric patients presenting with UI complaints. Our study demonstrated anatomical changes in lower urinary tract structures in pediatric patients with UI. These changes should be considered in the diagnosis, follow-up, and treatment of patients with UI.

Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene.

Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H).