title: End-stage renal disease in two pediatric patients with Fechtner syndrome.
abstract: Fechtner syndrome, a disease in the spectrum of the hereditary nephridites, is a macrothrombocytopenia associated with sensorineural hearing loss, cataracts, nephritis, and characteristic leukocyte inclusions. Renal biopsy findings are consistent with those of Alport syndrome, and the associated renal disease is said to be unusual before mid to late adulthood. Here, we review the available literature on this disease and report two African-American pediatric patients with Fechtner syndrome who rapidly progressed to end-stage renal disease during adolescence. We conclude that chronic renal failure can occur at a young age in patients with Fechtner syndrome, with a possible relation to race/ethnicity. Fechtner syndrome, or other variants of Alport syndrome, need to be considered in patients presenting with proteinuria and thrombocytopenia.
authors.affiliation: Division of Nephrology, Children's National Medical Center, Department of Pediatrics, The George Washington University School of Medicine, Washington, D.C., USA. mmoxeymi@cnmc.org
authors.forename: M M
authors.initials: MM
authors.lastname: Moxey-Mims
authors.forename: G
authors.initials: G
authors.lastname: Young
authors.forename: A
authors.initials: A
authors.lastname: Silverman
authors.forename: D M
authors.initials: DM
authors.lastname: Selby
authors.forename: J G
authors.initials: JG
authors.lastname: White
authors.forename: K K
authors.initials: KK
authors.lastname: Kher
mesh_terms: D000293:Adolescent; D000367:Age Factors; D044383:Black People; D001792:Blood Platelets / Q000473:pathology; D002648:Child; D005260:Female; D015726:Giant Cells / Q000473:pathology; D005920:Glomerular Mesangium / Q000098:blood supply; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000473:pathology; D009504:Neutrophils / Q000648:ultrastructure; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000473:pathology; D001741:Black or African American