Background: An association between chronic hyperaldosteronism and medullary nephrocalcinosis has rarely been made, with only a handful of cases described in literature.
Case Report: We describe five cases of hyperaldosteronism with a long- standing history in whom associated medullary nephrocalcinosis was established.
Conclusions: We infer that a chronic hyperaldosteronic status, whether primary or secondary, is a causal factor in the etiopathogenesis of medullary nephrocalcinosis. This article illustrates and summarizes various postulated theories that support our proposed association between hyperaldosteronism and nephrocalcinosis. We conclude that chronic hyperaldosteronism should be included as one of the causes of nephrocalcinosis and that our case series emphasizes the need of a well-organized retrospective study to prove it further.
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http://dx.doi.org/10.12659/PJR.894674 | DOI Listing |
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.
J Postgrad Med
July 2024
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu, India.
Medullary nephrocalcinosis is an uncommon manifestation of primary hyperaldosteronism (PHA) and the exact etiology of this association is still debated. Here we report three cases of PHA with medullary nephrocalcinosis and how medullary nephrocalcinosis in one patient led to misdiagnosis as renal tubular acidosis (RTA). Although PHA and RTA can share overlapping symptoms, careful evaluation of clinical presentation, biochemical tests, and imaging studies are essential to differentiate between the two conditions and ensure appropriate management.
View Article and Find Full Text PDFKidney Int Rep
July 2024
Department of Nephrology, Birmingham Women's and Children's Hospital, Birmingham, UK.
Introduction: Patients with primary hyperoxaluria type 1 (PH1), a genetic disorder associated with hepatic oxalate overproduction, frequently experience recurrent kidney stones and worsening kidney function. Lumasiran is indicated for the treatment of PH1 to lower urinary and plasma oxalate (POx).
Methods: ILLUMINATE-A (NCT03681184) is a phase III trial in patients aged ≥6 years with PH1 and estimated glomerular filtration rate (eGFR) ≥30 ml/min per 1.
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