Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
Pediatr Nephrol
; 24(2): 403-6, 2009 Feb.
Article
en En
| MEDLINE
| ID: mdl-18791744
ABSTRACT
Congenital analbuminemia is a rare autosomal recessive disease in which albumin is not synthesized. Patients with this disorder generally have minimal symptoms despite complete absence of the most abundant serum protein. We report a family in which the proband presented with acute glomerulonephritis and was found to have underlying congenital analbuminemia. Consequently, the patient's two older sisters were diagnosed with the same condition. Sequencing of the human serum albumin gene was performed, and a homozygous mutation in exon 3 was found in all three patients. Together with these three patients of Arab ethnicity, this mutation, known as Kayseri, is the most frequently described mutation in congenital analbuminemia. This article discusses clinical features and diagnostic challenges of this disorder, particularly in this case, where concomitant renal disease was present.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Albúmina Sérica
/
Hipoalbuminemia
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Glomerulonefritis
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Adult
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Nephrol
Asunto de la revista:
NEFROLOGIA
/
PEDIATRIA
Año:
2009
Tipo del documento:
Article