IgA Nephropathy Concomitant With Karyomegalic Interstitial Nephritis.

Adult Chromosomes, Human, Pair 15 / genetics Endodeoxyribonucleases / genetics Exodeoxyribonucleases / genetics Frameshift Mutation Glomerular Mesangium Glomerulonephritis, IGA / drug therapy Heterozygote Humans Kidney Function Tests Male Multifunctional Enzymes / genetics Mutation, Missense Nephritis, Interstitial / genetics
Gene mutation Immunoglobulin A nephropathy Karyomegalic interstitial nephritis

Journal

The American journal of the medical sciences
ISSN: 1538-2990
Titre abrégé: Am J Med Sci
Pays: United States
ID NLM: 0370506

Informations de publication

Date de publication:
09 2020
Historique:
received: 18 10 2019
revised: 27 03 2020
accepted: 09 04 2020
pubmed: 11 5 2020
medline: 7 10 2020
entrez: 11 5 2020
Statut: ppublish

Résumé

Immunoglobulin A (IgA) nephropathy is one of the most common glomerulonephritis characterized by the deposition of IgA in glomerular mesangium. Karyomegalic interstitial nephritis (KIN) is a rare interstitial nephritis with potential hereditary factors. IgA nephropathy concomitant with KIN has not yet been reported. Herein, we describe the clinical course, ultrasonic images and gastrointestinal endoscopy findings of a 28-year-old-male patient with IgA nephropathy with KIN. The pathologic examination of the renal biopsy specimen demonstrated mild mesangial proliferative IgA nephropathy with KIN. Molecular genetic testing detected an abnormality in FAN1 gene. The heterozygous mutation was present on chromosome 15q13.3. However, IgA nephropathy with KIN is a rare disorder, and its pathogenesis is yet to be clarified.

Identifiants

DOI: 10.1016/j.amjms.2020.04.010 PMID: 32387117
pubmed: 32387117
pii: S0002-9629(20)30127-0
doi: 10.1016/j.amjms.2020.04.010
pii:
doi:

Substances chimiques

Multifunctional Enzymes 0
Endodeoxyribonucleases EC 3.1.-
Exodeoxyribonucleases EC 3.1.-
FAN1 protein, human EC 3.1.-

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

287-292

Informations de copyright

Copyright © 2020 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

Auteurs

Ziliang Wang (Z)

Department of Nephrology, Jinan People's Hospital Affiliated to Shandong First Medical University, Jinan, China. Electronic address: lwlh2009wch76@126.com.

Xiaona Ni (X)

Department of Nephrology, Jinan People's Hospital Affiliated to Shandong First Medical University, Jinan, China.

Shuangshuang Zhu (S)

Department of Renal Pathology, King Medical Diagnostics Center, Guangzhou, China.

Shuling Yue (S)

Department of Renal Pathology, King Medical Diagnostics Center, Guangzhou, China.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 13-15 › Chromosomes humains de la paire 15 › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Endonucleases › Endodeoxyribonucleases › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Exonucleases › Exodeoxyribonucleases › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Appareil urogénital › Voies urinaires › Rein › Néphrons › Glomérule rénal › Mésangium glomérulaire › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Glomérulonéphrite à dépôts d'IgA › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic urologique › Tests de la fonction rénale › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Enzymes multifonctionnelles › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › IgA Nephropathy Concomitant With Karyomegalic...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrite › Néphrite interstitielle › IgA Nephropathy Concomitant With Karyomegalic...