title: Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge.
abstract: Hereditary renal amyloidosis is an autosomal dominant condition with considerable overlap with other amyloidosis types. Differential diagnosis is complicated, but is relevant for prognosis and treatment. We describe a patient with nephrotic syndrome and progressive renal failure, who had a mother with renal amiloidosis. Renal biopsy revealed amyloid deposits in glomerular space, with absence of light chains and protein AA. We suspected amyloidosis with fibrinogen A alpha chain deposits, which is the most frequent cause of hereditary amyloidosis in Europe, with a glomerular preferential affectation. However, the genetic study showed a novel mutation in apolipoprotein AI. On reviewing the biopsy of the patient's mother similar glomerular deposits were found, but there were significant deposits in the renal medulla as well, which is typical in APO AI amyloidosis. The diagnosis was confirmed by immunohistochemistry. Apo AI amyloidosis is characterized by slowly progressive renal disease and end-stage renal disease occurs aproximately 3 to 15 years from initial diagnosis. Renal transplantation offers an acceptable graft survival and in these patients with hepatorenal involvement simultaneous liver and kidney transplantation could be considered.
authors: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Kelly Del Rocío
authors: Kdel R
authors: Samillán-Sosa
authors: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Gloria
authors: G
authors: Sención-Martínez
authors: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Vanessa
authors: V
authors: Lopes-Martín
authors: Servicio de Anatomía Patológica, Hospital Universitario 12 de Octubre, Madrid, España.
authors: Miguel Angel
authors: MA
authors: Martínez-González
authors: Servicio de Anatomía Patológica, Hospital Clínic, Barcelona, España.
authors: Manel
authors: M
authors: Solé
authors: Servicio de Inmunología, Hospital Clínic, Barcelona, España.
authors: Jose Luis
authors: JL
authors: Arostegui
authors: Unidad de Genética Clínica, Medicina Interna, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Jose
authors: J
authors: Mesa
authors: Unidad de Genética Clínica, Medicina Interna, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Juan de Dios
authors: Jde D
authors: García-Díaz
authors: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors: Diego
authors: D
authors: Rodríguez-Puyol
authors: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España. Electronic address: pmmiguel@salud.madrid.org.
authors: Patricia
authors: P
authors: Martínez-Miguel
mesh_terms: D000328:Adult; D028226:Amyloidosis, Familial / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D016632:Apolipoprotein A-I / Q000235:genetics*; D001706:Biopsy; D018450:Disease Progression; D004630:Emergencies; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D016030:Kidney Transplantation; D008297:Male; D009404:Nephrotic Syndrome / Q000209:etiology* / Q000473:pathology; D010530:Peritoneal Dialysis; D011183:Postoperative Complications / Q000209:etiology; D013161:Splenic Rupture / Q000209:etiology
chemical_list: C505693:APOA1 protein, human; D016632:Apolipoprotein A-I
keywords: Amiloidosis renal hereditaria; Apolipoprotein AI; Apolipoproteína AI; Enfermedad renal progresiva; Hereditary renal amiloidosis; Progressive renal disease