title: Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
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.
authors.affiliation: Division of Pediatric Nephrology, Shaare Zedek Medical Center, 12 Bayit St, Jerusalem, Israel, 91031. rbeckercohen@yahoo.com
authors.forename: Rachel
authors.initials: R
authors.lastname: Becker-Cohen
authors.forename: Ruth
authors.initials: R
authors.lastname: Belostotsky
authors.forename: Efrat
authors.initials: E
authors.lastname: Ben-Shalom
authors.forename: Sofia
authors.initials: S
authors.lastname: Feinstein
authors.forename: Choni
authors.initials: C
authors.lastname: Rinat
authors.forename: Yaacov
authors.initials: Y
authors.lastname: Frishberg
mesh_terms: 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
chemical_list: D012709:Serum Albumin
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