Results 61 to 70 of about 10,151 (205)
Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC) [PDF]
Patients with mutations in Cldn16 suffer from familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) which can lead to renal insufficiency.
Amr Al-Shebel +3 more
core +2 more sources
Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Nephrocalcinosis with Hypokalaemic Syndrome [PDF]
, 1961 A case of nephrocalcinosis originated from renal acido s is is presented of a 31-year-old woman, suffering from hypocalaemic syndrome, periodic paralysis of the ...
平山, 多秋 +2 more
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Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?
, 2018 The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging ...
Imel, Erik A. +9 more
core +1 more source
Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years
Clinical Advances in Periodontics, Volume 16, Issue 2, Page 330-337, June 2026.Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay +2 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra +4 more
wiley +1 more source
BMC Research Notes, 2017 Background Hyperparathyroidism is common in patients undergoing kidney transplantation. Occasionally, this condition can cause early allograft dysfunction by inducing calcium phosphate deposition in the allograft, which results in nephrocalcinosis ...
Boonyarit Cheunsuchon +1 more
doaj +1 more source
Kidney Stone, Nutritional Perceptions and Impact of Tea on Stone Formation
Phytochemicals in Food and Medicine, Volume 1, Issue 2, June 2026.ABSTRACT The significant financial burden that urinary stone disease places on healthcare systems is only anticipated to increase over time. It is becoming more common over the globe. It is an increasing urinary condition that impacts around 12% of the global population, and environmental variables appear to be a key contributor.
Munir Ahmed +5 more
wiley +1 more source
Microscopic nephrocalcinosis in chronic kidney disease patients
, 2015 Experimental data indicate that microscopic calcium phosphate deposition in the kidney (nephrocalcinosis) may accelerate progression of chronic kidney disease (CKD).
Claes, Kathleen +8 more
core +1 more source
BARTTER'S SYNDROME: A CASE REPORT OF NEPHROCALCINOSIS
Eurasian Journal of Medicine, 2019 Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically
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