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| http://dx.doi.org/10.2169/internalmedicine.56.7704 | DOI Listing |
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Idiopathic infantile hypercalcemia with a variant triggered by vitamin D supplementation in fortified milk: A case report.
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 PDFExpression of osteogenic proteins in kidneys of cats with nephrocalcinosis.
J 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.
Dent's disease: case series from a single center.
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.
A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.
Ups J Med Sci
October 2024
Institute of Surgical Sciences, Department of Plastic and Oral & Maxillofacial Surgery, Uppsala University, Uppsala, Sweden.
Article Synopsis
- Enamel renal syndrome (ERS) presents unique challenges in diagnosis and treatment, primarily involving issues with enamel formation and kidney health, making patient management complex and often requiring specialized dental care.
- A case study demonstrates the long-term management of a patient diagnosed with ERS after a delay in diagnosis, including genetic confirmation and ongoing nephrological monitoring for related complications.
- The findings emphasize the necessity for integrated dental and medical care for patients with syndromic disorders, as well as the need for continuous monitoring of renal health, which shows a favorable prognosis despite the intricate nature of the condition.
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.
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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