| A case of minimal change disease in a Fabry patient. | |
| | |
MedLine Citation:
|
PMID: 19876652 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in alpha-galactosidase A activity. Glycosphingolipids accumulation causes renal injury that manifests early during childhood as tubular dysfunction and later in adulthood as proteinuria and renal insufficiency. Nephrotic syndrome as the first evidence of Fabry-related kidney damage is rare. We report the case of a teenager with known Fabry disease and normal renal function who developed acute nephrotic syndrome. He was found to have typical glycosphingolipids accumulation with no other findings suggestive of alternative causes of nephrotic syndrome on kidney biopsy. After treatment with enzyme replacement therapy and oral steroids, he went into complete remission from nephrotic syndrome, a response that is atypical for Fabry disease patients who develop heavy proteinuria as a result of longstanding disease and chronic renal injury. The nephrotic syndrome in this patient appears to have developed secondary to minimal change disease. We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease. |
| | |
Authors:
|
Yuri A Zarate; Larry Patterson; Hong Yin; Robert J Hopkin |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2009-10-30 |
Journal Detail:
|
Title: Pediatric nephrology (Berlin, Germany) Volume: 25 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2010 Mar |
Date Detail:
|
Created Date: 2010-01-25 Completed Date: 2010-04-02 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
|
Languages: eng Pagination: 553-6 Citation Subset: IM |
Affiliation:
|
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acute Disease Adolescent Anti-Inflammatory Agents / therapeutic use Creatinine / blood Fabry Disease / complications*, drug therapy, pathology Humans Immunotherapy Kidney Function Tests Kidney Glomerulus / pathology Male Nephrosis, Lipoid / drug therapy, etiology*, pathology Podocytes / pathology Steroids / therapeutic use alpha-Galactosidase / genetics*, therapeutic use* |
| Chemical | |
Reg. No./Substance:
|
0/Anti-Inflammatory Agents; 0/Steroids; 60-27-5/Creatinine; EC 3.2.1.22/alpha-Galactosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Anaerobic treatment of winery wastewater in fixed bed reactors.
Next Document: Sevelamer carbonate increases serum bicarbonate in pediatric dialysis patients.