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Infantile nephrocalcinosis with chronic diarrhea.
Pediatr Nephrol
December 2024
Department of Pediatrics, Aster MIMS (Malabar Institute of Medical Sciences), Calicut, Kerala, India, 673016.
A 3-month-old girl presented with symptoms indicative of dysuria, gross hematuria, chronic diarrhea, and nephrocalcinosis. She was born to fourth-degree consanguineous parents. The infant exhibited hypercalciuria and hyperoxaluria, and her stool tested positive for reducing sugars.
View Article and Find Full Text PDFInvestigating the Prevalence of Hypercalciuria in Children Aged 2-16 Years With Asymptomatic Microscopic Hematuria in 2020 in Tehran Children's Medical Center.
Clin Case Rep
November 2024
Pediatric Chronic Kidney Diseases Research Center & Gene, Cell, and Tissue Research Institute, Children's Medical Center Tehran University of Medical Sciences (TUMS) Tehran Iran.
The prevalence of hypercalciuria in children is 3%-10% globally and up to 35% in the United States. Hypercalciuria in children has many presentations; it causes different metabolic disorders and can negatively affect a child's growth. It also increases the risk of low bone mineral density and urinary tract infections.
View Article and Find Full Text PDFPrevalence, risk factors and effect of curative parathyroidectomy on nephrocalcinosis in Asian-Indian patients with symptomatic primary hyperparathyroidism.
J Endocrinol Invest
October 2024
Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Article Synopsis
- - Primary hyperparathyroidism (PHPT) leads to excess parathyroid hormone production, causing high calcium levels (hypercalcemia) and related kidney issues, including stone diseases and nephrocalcinosis, which were evaluated in a study of 583 patients divided into four groups based on their kidney conditions.
- - Clinical factors such as younger age, male gender, hematuria, and low eGFR were linked to higher rates of nephrocalcinosis, with significant differences in calcium levels between groups with and without kidney conditions.
- - Post-surgery, patients with nephrocalcinosis showed reduced serum calcium levels and a small percentage experienced complete resolution of their condition, indicating that surgery may have beneficial effects
A novel likely pathogenic CLCN5 variant in Dent's disease.
BMC Nephrol
August 2023
Richard Bright Renal Service, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
Background: The majority of cases of Dent's disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting in proximal tubular dysfunction. We present three members of the same family and one unrelated paediatric patient with the same insertion-deletion CLCN5 variant. The identification of these patients and positive familial segregation led to the re-classification of this variant from one of unknown significance to one of likely pathogenicity.
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