| Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation. | |
| | |
MedLine Citation:
|
PMID: 16703378 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome. Angiotensin converting enzyme (ACE) and prostaglandin synthesis inhibition along with supportive albumin infusion therapy, with or without unilateral nephrectomy, has allowed management of the disease without dialysis until transplantation in some cases of congenital nephrotic syndrome. Reported here is a case of heterozygous NPHS1 mutation, with normal NPHS2 gene structure, presenting during prenatal screening and developing nephrotic syndrome within days of birth. The patient has responded well to very low doses of ACE inhibitors and indomethacin alone. This case illustrates the importance of an initial trial of conservative medical therapy in milder presentations of the congenital nephrotic syndrome, especially given the current limitations of diagnostic testing and our inadequate knowledge of the complete spectrum of disorders of podocyte proteins. |
| | |
Authors:
|
Kevin V Lemley |
Related Documents
:
|
16183408 - Glomerular tip lesion associated with nonsteroidal anti-inflammatory drug-induced nephr... 6738768 - Nephrotic syndrome associated with use of the nonsteroidal anti-inflammatory drugs. cas... 7193718 - Familial nephrotic syndrome and focal segmental glomerulosclerosis. 3750738 - A nephrotic-like syndrome with an associated mesangio-proliferative glomerulopathy in a... 19864878 - A case of ovine female xy sex reversal syndrome not related to anomalies in the sex-det... 7260498 - Post-traumatic psychiatric disturbances: patterns and predictors of outcome. |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2006-04-20 |
Journal Detail:
|
Title: Pediatric nephrology (Berlin, Germany) Volume: 21 ISSN: 0931-041X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2006 Jun |
Date Detail:
|
Created Date: 2006-05-16 Completed Date: 2006-11-14 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
|
Languages: eng Pagination: 864-6 Citation Subset: IM |
Affiliation:
|
Division of Nephrology, S161, Stanford University Medical Center, Stanford, CA 94305-5114, USA. klemley@stanford.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Angiotensin-Converting Enzyme Inhibitors / therapeutic use* Female Heterozygote Humans Infant, Newborn Male Membrane Proteins / genetics* Mutation Nephrotic Syndrome / diagnosis*, drug therapy* Prenatal Diagnosis* |
| Chemical | |
Reg. No./Substance:
|
0/Angiotensin-Converting Enzyme Inhibitors; 0/Membrane Proteins; 0/nephrin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Four-year follow-up of oral health surveillance in renal transplant children.
Next Document: Crescentic glomerulonephritis in a child with infective endocarditis.