Autosomal dominant ApoA4 mutations present as
tubulointerstitial kidney disease with medullary amyloidosis

J 2024

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

KMOCHOVA, Tereza; Kendrah O. KIDD; Andrew ORR; Ales HNIZDA; Hana HARTMANNOVA et al.

Základní údaje

Originální název

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Autoři

KMOCHOVA, Tereza; Kendrah O. KIDD; Andrew ORR; Ales HNIZDA; Hana HARTMANNOVA; Katerina HODANOVA; Petr VYLETAL; Karolina NAUSOVA; Vitezslav BRINSA; Helena TRESLOVA; Jana SOVOVA; Veronika BARESOVA; Klara SVOJSOVA; Alena VRBACKA; Viktor STRANECKY; Victoria C. ROBINS; Abbigail TAYLOR; Lauren MARTIN; Ana RIVAS-CHAVEZ; Riley PAYNE; Heidi A. BLEYER; Adrienne WILLIAMS; Helmut G. RENNKE; Astrid WEINS; Patrick J. SHORT; Varun AGRAWAL; Leroy J. STORSLEY; Sushrut S. WAIKAR; Ellen D. MCPHAIL; Surendra DASARI; Nelson LEUNG; Tom HEWLETT; Jake YORKE; Daniel GASTON; Laurette GELDENHUYS; Mark SAMUELS; Adam P. LEVINE; Michael WEST; Helena HULKOVA; Petr POMPACH; Petr NOVAK; Richard B. WEINBERG; Karen BEDARD; Martina ZIVNA; Jakub SIKORA; Sr. Anthony BLEYER a Stanislav KMOCH

Vydání

Kidney International, New York, NATURE PUBLISHING GROUP, 2024, 0085-2538

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30217 Urology and nephrology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 12.600

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:90242/24:00139169

Organizační jednotka

CIISB III

Klíčová slova anglicky

AApoA-IV; ApoA4; autosomal dominant tubulointerstitial kidney disease; medullary amyloidosis

Štítky

ne MU, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 26. 3. 2025 16:02, Mgr. Eva Dubská

Anotace

V originále

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 m(2), including all 25 individuals with kidney failure. Significantly, 11 of 14 genetically unaffected individuals had an eGFR over 60 ml/min/1.73 m(2). 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.

Návaznosti

90242, velká výzkumná infrastruktura

Název: CIISB III

Citovat

@article{2486845,
   author = {Kmochova, Tereza and Kidd, Kendrah O. and Orr, Andrew and Hnizda, Ales and Hartmannova, Hana and Hodanova, Katerina and Vyletal, Petr and Nausova, Karolina and Brinsa, Vitezslav and Treslova, Helena and Sovova, Jana and Baresova, Veronika and Svojsova, Klara and Vrbacka, Alena and Stranecky, Viktor and Robins, Victoria C. and Taylor, Abbigail and Martin, Lauren and RivasandChavez, Ana and Payne, Riley and Bleyer, Heidi A. and Williams, Adrienne and Rennke, Helmut G. and Weins, Astrid and Short, Patrick J. and Agrawal, Varun and Storsley, Leroy J. and Waikar, Sushrut S. and McPhail, Ellen D. and Dasari, Surendra and Leung, Nelson and Hewlett, Tom and Yorke, Jake and Gaston, Daniel and Geldenhuys, Laurette and Samuels, Mark and Levine, Adam P. and West, Michael and Hulkova, Helena and Pompach, Petr and Novak, Petr and Weinberg, Richard B. and Bedard, Karen and Zivna, Martina and Sikora, Jakub and Bleyer, Sr. Anthony and Kmoch, Stanislav},
   article_location = {New York},
   article_number = {4},
   doi = {https://doi.org/10.1016/j.kint.2023.11.021},
   keywords = {AApoA-IV; ApoA4; autosomal dominant tubulointerstitial kidney disease; medullary amyloidosis},
   language = {eng},
   issn = {0085-2538},
   journal = {Kidney International},
   title = {Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis},
   url = {https://www.sciencedirect.com/science/article/pii/S0085253823008591},
   volume = {105},
   year = {2024}
}

TY  - JOUR
ID  - 2486845
AU  - Kmochova, Tereza - Kidd, Kendrah O. - Orr, Andrew - Hnizda, Ales - Hartmannova, Hana - Hodanova, Katerina - Vyletal, Petr - Nausova, Karolina - Brinsa, Vitezslav - Treslova, Helena - Sovova, Jana - Baresova, Veronika - Svojsova, Klara - Vrbacka, Alena - Stranecky, Viktor - Robins, Victoria C. - Taylor, Abbigail - Martin, Lauren - Rivas-Chavez, Ana - Payne, Riley - Bleyer, Heidi A. - Williams, Adrienne - Rennke, Helmut G. - Weins, Astrid - Short, Patrick J. - Agrawal, Varun - Storsley, Leroy J. - Waikar, Sushrut S. - McPhail, Ellen D. - Dasari, Surendra - Leung, Nelson - Hewlett, Tom - Yorke, Jake - Gaston, Daniel - Geldenhuys, Laurette - Samuels, Mark - Levine, Adam P. - West, Michael - Hulkova, Helena - Pompach, Petr - Novak, Petr - Weinberg, Richard B. - Bedard, Karen - Zivna, Martina - Sikora, Jakub - Bleyer, Sr. Anthony - Kmoch, Stanislav
PY  - 2024
TI  - Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
JF  - Kidney International
VL  - 105
IS  - 4
SP  - 799-811
EP  - 799-811
PB  - NATURE PUBLISHING GROUP
SN  - 00852538
KW  - AApoA-IV
KW  - ApoA4
KW  - autosomal dominant tubulointerstitial kidney disease
KW  - medullary amyloidosis
UR  - https://www.sciencedirect.com/science/article/pii/S0085253823008591
N2  - 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 m(2), including all 25 individuals with kidney failure. Significantly, 11 of 14 genetically unaffected individuals had an eGFR over 60 ml/min/1.73 m(2). 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.
ER  -

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