AI Article Synopsis
Article Abstract
Renal Fanconi syndrome is diagnosed by its cardinal features of glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalaemia, hypophosphatemia and rickets. We report a seven-year-old boy with nephropathic cystinosis who presented with all the cardinal features of renal Fanconi syndrome associated with rickets, pathological fractures, stage IV chronic kidney disease (CKD) and hypothyroidism. Slit-lamp examination of the cornea confirmed the diagnosis. However glycosuria was conspicuously absent. Whenever there are features of rickets with failure to thrive and recurrent vomiting renal rickets should be ruled out. Cystinosis is one such disorder and we report this case due its rarity and interesting clinical presentation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413127 | PMC |
| http://dx.doi.org/10.7860/JCDR/2015/10875.5692 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Autoimmune Tubulopathies.
J Am Soc Nephrol
January 2025
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université Paris Cité, F-75006 Paris, France.
The renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare and we hypothesize that they are underdiagnosed.
View Article and Find Full Text PDFTenofovir-associated Fanconi syndrome in liver transplant recipients with hepatitis B: A retrospective case series.
Am J Transplant
December 2024
Division of Gastroenterology, Hepatology, and Nutrition, University of Minnesota, Minneapolis, Minnesota, USA. Electronic address:
Tenofovir-associated Fanconi syndrome (TAFS) is a proximal renal tubule disorder rarely reported in patients after liver transplantation (LT) for hepatitis B (HBV). In a retrospective review of 79 HBV-LT recipients, 8/66 (12.1%) on tenofovir post-LT developed TAFS.
View Article and Find Full Text PDFClinicopathological characteristics of light chain proximal tubulopathy: a multicentre case series.
J Clin Pathol
December 2024
National Clinical Research Center for Kidney Diseases, Jinling Hospital, Nanjing Medical University, Nanjing, China
Aims: Light chain proximal tubulopathy (LCPT) is a rare complication of paraprotein-related diseases. We report a case series to present the clinicopathological characteristics and outcomes of LCPT.
Methods: A multicentre retrospective case series of 47 patients with LCPT, consisting of 36 crystalline, three non-crystalline, and eight mixed LCPTs, was studied between January 2007 and December 2023.
Fanconi syndrome following administration of oral supplements containing red yeast rice: several months follow-up of three cases.
CEN Case Rep
December 2024
Department of Nephrology, Faculty of Medicine, Juntendo University, 3-1-3 Hongou, Bunkyo-ku, Tokyo, 133-8431, Japan.
Article Synopsis
- The long-term effects and treatment of acute kidney injury (AKI) from the red yeast rice supplement Benikoji CholesteHelp are not fully understood, but three cases of renal dysfunction improved after stopping the supplement.
- In the first case, a 59-year-old woman developed severe renal impairment and Fanconi syndrome after 7 months of use, but her kidney function gradually improved over three months post-discontinuation, though not back to baseline levels.
- The other two cases involved men aged 48 and 47 who experienced mild renal dysfunction after taking the supplement for 2 and 4 months, respectively, both of which showed significant improvement after stopping the supplement, indicating that discontinuation may reverse renal impairment in these scenarios.
Investigation of glucosuria in children.
Minerva Pediatr (Torino)
December 2024
Department of Pediatrics, Second Faculty of Medicine, Motol University Hospital, Charles University, Prague, Czech Republic.
Article Synopsis
- Previous recommendations on diagnosing familial renal glucosuria lacked a comprehensive understanding of glucosuria's differential diagnosis.
- This review aims to summarize the various causes of glucosuria and propose an evidence-based diagnostic approach for children affected by it.
- The findings indicate that several factors, including genetic and acquired conditions, can impact glucose reabsorption in the kidneys, necessitating the exclusion of diabetes mellitus and other hyperglycemia-related conditions before making a diagnosis.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!