AApoAI amyloidosis

MedGen UID:: 1842920
•Concept ID:: C5680269
•: Disease or Syndrome

Synonyms:	Apolipoprotein A-I amyloidosis; apolipoprotein A-I amyloidosis; familial amyloid nephropathy due to apolipoprotein A-I variant; Familial amyloid nephropathy due to apolipoprotein A-I variant; Familial renal amyloidosis due to apolipoprotein A-I variant; familial renal amyloidosis due to apolipoprotein A-I variant; hereditary amyloid nephropathy due to apolipoprotein A-I variant; Hereditary amyloid nephropathy due to apolipoprotein A-I variant; Hereditary renal amyloidosis due to apolipoprotein A-I variant; hereditary renal amyloidosis due to apolipoprotein A-I variant
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019731
Orphanet:	ORPHA93560

Definition

A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAApoAI amyloidosis

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Amyloidosis
    - Familial visceral amyloidosis, Ostertag type
      - AApoAI amyloidosis

Recent clinical studies

Etiology

Prevalence and origin of amyloid in kidney biopsies.

von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C
Am J Surg Pathol 2009 Aug;33(8):1198-205. doi: 10.1097/PAS.0b013e3181abdfa7. PMID: 19561448

See all (1)

Diagnosis

The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre.

Cohen OC, Blakeney IJ, Law S, Ravichandran S, Gilbertson J, Rowczenio D, Mahmood S, Sachchithanantham S, Wisniowski B, Lachmann HJ, Whelan CJ, Martinez-Naharro A, Fontana M, Hawkins PN, Gillmore JD, Wechalekar AD
Amyloid 2022 Dec;29(4):237-244. Epub 2022 May 3 doi: 10.1080/13506129.2022.2070741. PMID: 35502644

Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism.

Pané A, Ruiz S, Orois A, Martínez D, Squarcia M, Sastre L, Ruiz P, Caballería J, Mora M, Hanzu FA, Halperin I
Amyloid 2018 Jun;25(2):75-78. Epub 2018 Feb 15 doi: 10.1080/13506129.2018.1438390. PMID: 29446975

Prevalence and origin of amyloid in kidney biopsies.

von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C
Am J Surg Pathol 2009 Aug;33(8):1198-205. doi: 10.1097/PAS.0b013e3181abdfa7. PMID: 19561448

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.

Hazenberg AJ, Dikkers FG, Hawkins PN, Bijzet J, Rowczenio D, Gilbertson J, Posthumus MD, Leijsma MK, Hazenberg BP
Laryngoscope 2009 Mar;119(3):608-15. doi: 10.1002/lary.20106. PMID: 19235761

Immunohistochemical classification of amyloid in surgical pathology revisited.

Kebbel A, Röcken C
Am J Surg Pathol 2006 Jun;30(6):673-83. doi: 10.1097/00000478-200606000-00002. PMID: 16723844

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