Primary hyperaldosteronism (PA) is a common disease with a prevalence of 5-10% in unselected patients with hypertension. Medullary nephrocalcinosis is a radiological diagnosis and refers to diffuse calcification in the renal parenchyma. The three commonest causes of nephrocalcinosis are hyperparathyroidism, distal renal tubular acidosis, and medullary sponge kidney. PA is not a recognized cause of nephrocalcinosis. There are a few case reports linking PA with nephrocalcinosis published till date. In this case series, we report three cases where PA was possibly associated with medullary nephrocalcinosis. In all three cases, the common causes of nephrocalcinosis were excluded by careful clinical history, biochemical evaluation, and radiological findings. We conclude and emphasize that a diagnosis of PA as an etiology of medullary nephrocalcinosis should be sought after common causes have been excluded, at least in those with hypertension that is difficult to control.
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http://dx.doi.org/10.5001/omj.2021.32 | DOI Listing |
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.
View Article and Find Full Text PDFJ Vet Intern Med
January 2025
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St Paul, Minnesota, USA.
Background: Nephrocalcinosis is a common pathological finding in cats with chronic kidney disease and nephrolithiasis. Understanding its pathogenesis may identify future therapeutic targets.
Hypothesis: Nephrocalcinosis is associated with expression of an osteogenic phenotype.
Turk J Pediatr
November 2024
Department of Pediatric Nephrology, Gazi University, Ankara, Türkiye.
Background: Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.
Cases: The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected.
Ups J Med Sci
October 2024
Institute of Surgical Sciences, Department of Plastic and Oral & Maxillofacial Surgery, Uppsala University, Uppsala, Sweden.
Mol Syndromol
October 2024
Division of Pediatric Intensive Care, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.
Introduction: Christianson syndrome is a rare neurodevelopmental disorder associated with mutations in the gene located on the chromosome X. It is characterized by intellectual disability, developmental delay, speech and language impairments, dysmorphic features, seizures, ataxia, and neurobehavioral problems.
Case Presentation: A 5-year-old boy was presented with respiratory failure and then progressive muscle weakness in all four extremities.
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