On the basis of epidemiological study in closed children's population of Bratislava (350 000 inhabitants, out of them 70 000 children) the conclusions about falling urolithiasis incidence in children of urban population are drawn. Analysis and clinical evaluations of 287 children's patients with urolithiasis shows that in solitary calculi (in partial casts as well) the results of treatment are very good, repeated recurrences are rare. The results are considerably worse in multiple and great staghorn stones. The importance of first surgical treatment, in which all stones should be removed, as well as principles of both general and specific treatment in relationship with stone composition and metabolic disturbances are stressed.
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Pediatr Nephrol
March 2025
Department of Paediatrics, Aster MIMS Hospital, Calicut, Kerala, 673017, India.
Congenital sucrase isomaltase deficiency (CSID) is a rare autosomal recessive monogenic disorder of small intestinal malabsorption and manifests typically in early childhood with chronic osmotic diarrhoea. Though there have been case reports in adults presenting with hypercalcemia and renal calculi in CSID, this is quite rare in children. We hereby report a 6-year-old boy who presented with recurrent episodes of calcium oxalate calculi without any gastrointestinal symptoms and was confirmed as having sucrase isomaltase deficiency by genetic analysis.
View Article and Find Full Text PDFFront Pediatr
April 2024
Mother and Child Medicine Department, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania.
Celiac disease, firstly described in children, is a type of T-cell enteropathy that occurs in individuals genetically predisposed to gluten exposure. The estimated global prevalence of celiac disease is continuously increasing. Although, traditionally, celiac disease was diagnosed in children with failure to thrive and digestive issues, it is now recognized that may present with a wide range of symptoms beyond gastrointestinal ones.
View Article and Find Full Text PDFEndocrine
May 2024
Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari "A. Moro", Bari, Italy.
Purpose: To investigate the incidence of nephrolithiasis in a cohort of children with congenital adrenal hyperplasia (CAH), and to study if there is an association with the metabolic control of the disease.
Methods: This study was designed as a multicenter 1 year-prospective study involving 52 subjects (35 males) with confirmed molecular diagnosis of CAH due to 21-hydroxylase deficiency (21-OHD). Each patient was evaluated at three different time-points: T0, T1 (+6 months of follow-up), T2 (+12 months of follow up).
Nephrology (Carlton)
April 2024
Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey.
Background: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey.
View Article and Find Full Text PDFG Ital Nefrol
December 2023
U.O. Nefrologia e Dialisi - Ospedale "M. Bufalini", Cesena, Italia.
Mutations in the 24-hydroxylase gene CYP24A1 have been recognized as causes of childhood idiopathic hypercalcemia (IIH), a rare disease (incidence <1:1,000,000 live births) characterized by increased vitamin D sensitivity, with symptomatic severe hypercalcemia. IIH was first described in Great Britain two years after the start of a program of vitamin D supplementation in milk for the prevention of rickets, manifesting in about 200 children with severe hypercalcemia, dehydration, growth failure, weight loss, muscle hypotonia, and nephrocalcinosis. The association between the epidemic occurrence of IIH and vitamin D administration was quickly attributed to intrinsic hypersensitivity to vitamin D, and the pathogenic mechanism was recognized in the inactivation of Cytochrome P450 family 24 subfamily A member 1 (CYP24A1), which was identified as the molecular basis of the pathology.
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