Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China
Clinics
;
68(5): 628-631, maio 2013. tab, graf
Article
in English
| LILACS
| ID: lil-675765
ABSTRACT
OBJECTIVES:
Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings.METHODS:
Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients.RESULTS:
All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases.CONCLUSIONS:
The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis. .
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Rare Diseases
/
Intracellular Signaling Peptides and Proteins
/
Membrane Proteins
/
Mutation
/
Nephrotic Syndrome
Type of study:
Diagnostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Clinics
Journal subject:
Medicine
Year:
2013
Type:
Article
/
Project document
Affiliation country:
China
Institution/Affiliation country:
University of Hangzhou School of Medicine/CN
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