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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
T. Kmochová, KO. Kidd, A. Orr, A. Hnízda, H. Hartmannová, K. Hodaňová, P. Vyleťal, K. Naušová, V. Brinsa, H. Trešlová, J. Sovová, V. Barešová, K. Svojšová, A. Vrbacká, V. Stránecký, VC. Robins, A. Taylor, L. Martin, A. Rivas-Chavez, R. Payne, HA....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
Freely Accessible Science Journals
od 1972
Open Access Digital Library
od 1972-01-01
- MeSH
- amyloidóza * MeSH
- apolipoproteiny A * MeSH
- chronická renální insuficience * diagnóza genetika komplikace MeSH
- intersticiální nefritida * diagnóza genetika komplikace MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V of the ApoA4 protein. We identified two other distantly related families from our registry with the same variant and two other distantly related families with a chr11:116693454 C>T (hg19) variant encoding the missense mutation p.D33N. Both mutations are unique to affected families, evolutionarily conserved and predicted to expand the amyloidogenic hotspot in the ApoA4 structure. Clinically affected individuals suffered from CKD with a bland urinary sediment and a mean age for kidney failure of 64.5 years. Genotyping identified 48 genetically affected individuals; 44 individuals had an estimated glomerular filtration rate (eGFR) under 60 ml/min/1.73 m2, including all 25 individuals with kidney failure. Significantly, 11 of 14 genetically unaffected individuals had an eGFR over 60 ml/min/1.73 m2. Fifteen genetically affected individuals presented with higher plasma ApoA4 concentrations. Kidney pathologic specimens from four individuals revealed amyloid deposits limited to the medulla, with the mutated ApoA4 identified by mass-spectrometry as the predominant amyloid constituent in all three available biopsies. Thus, ApoA4 mutations can cause autosomal dominant medullary amyloidosis, with marked amyloid deposition limited to the kidney medulla and presenting with autosomal dominant CKD with a bland urinary sediment. Diagnosis relies on a careful family history, APOA4 sequencing and pathologic studies.
Centre de Recherche du CHU Ste Justine Montreal Quebec Canada
Department of Biochemistry Université de Montréal Montreal Quebec Canada
Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA
Department of Medicine Université de Montréal Montreal Quebec Canada
Department of Medicine University of Manitoba Winnipeg Manitoba Canada
Department of Ophthalmology and Visual Sciences Dalhousie University Halifax Nova Scotia Canada
Department of Pathology Faculty of Medicine Dalhousie University Halifax Nova Scotia Canada
Department of Quantitative Health Sciences Mayo Clinic Rochester Minnesota USA
Division of Nephrology and Hypertension Division of Hematology Mayo Clinic Rochester Minnesota USA
Institute of Microbiology of the Czech Academy of Sciences Vestec Czech Republic
Institute of Pathology 1st Faculty of Medicine Charles University Prague Czech Republic
Pathology Department Brigham and Women's Hospital Harvard Medical School Boston Massachusetts USA
Research Department of Pathology University College London London UK
Sano Genetics Limited London UK
Section on Nephrology Wake Forest University School of Medicine Winston Salem North Carolina USA
Citace poskytuje Crossref.org
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- $a Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V of the ApoA4 protein. We identified two other distantly related families from our registry with the same variant and two other distantly related families with a chr11:116693454 C>T (hg19) variant encoding the missense mutation p.D33N. Both mutations are unique to affected families, evolutionarily conserved and predicted to expand the amyloidogenic hotspot in the ApoA4 structure. Clinically affected individuals suffered from CKD with a bland urinary sediment and a mean age for kidney failure of 64.5 years. Genotyping identified 48 genetically affected individuals; 44 individuals had an estimated glomerular filtration rate (eGFR) under 60 ml/min/1.73 m2, including all 25 individuals with kidney failure. Significantly, 11 of 14 genetically unaffected individuals had an eGFR over 60 ml/min/1.73 m2. Fifteen genetically affected individuals presented with higher plasma ApoA4 concentrations. Kidney pathologic specimens from four individuals revealed amyloid deposits limited to the medulla, with the mutated ApoA4 identified by mass-spectrometry as the predominant amyloid constituent in all three available biopsies. Thus, ApoA4 mutations can cause autosomal dominant medullary amyloidosis, with marked amyloid deposition limited to the kidney medulla and presenting with autosomal dominant CKD with a bland urinary sediment. Diagnosis relies on a careful family history, APOA4 sequencing and pathologic studies.
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