Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
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.
Becker-Cohen
Rachel
R
Division of Pediatric Nephrology, Shaare Zedek Medical Center, 12 Bayit St, Jerusalem, Israel, 91031. rbeckercohen@yahoo.com
Belostotsky
Ruth
R
Ben-Shalom
Efrat
E
Feinstein
Sofia
S
Rinat
Choni
C
Frishberg
Yaacov
Y
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D005921:Glomerulonephritis / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D034141:Hypoalbuminemia / Q000150:complications* / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D012709:Serum Albumin / Q000235:genetics*; D055815:Young Adult
D012709:Serum Albumin
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