Cargando…

Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature

Mutations in the cubilin (CUBN) gene commonly cause Imerslund-Gräsbeck syndrome, while isolated proteinuria as a result of CUBN variations is rarely reported. The clinical manifestation is mainly chronic isolated proteinuria in the non-nephrotic range. However, findings to date suggest that isolated...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ran, Jingyang, Chen, Qingsong, Hu, Yudong, Yang, Pengfei, Yu, Guiquan, Liao, Xiaohui, Lei, Jianrong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2023
Materias:	Case and Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293958/ https://www.ncbi.nlm.nih.gov/pubmed/37384121 http://dx.doi.org/10.1159/000530466

Ejemplares similares

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
por: Jayasinghe, Kushani, et al.
Publicado: (2019)

Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants
por: Shi, Vivian, et al.
Publicado: (2023)

Novel pathogenic variants in CUBN uncouple proteinuria from renal function
por: Gan, Chun, et al.
Publicado: (2022)

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
por: Bedin, Mathilda, et al.
Publicado: (2022)

CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children
por: Yang, Jing, et al.
Publicado: (2022)

Phylogenetic analysis of cubilin (CUBN) gene
por: Shaik, Abjal Pasha, et al.
Publicado: (2013)

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)
por: Owczarek-Lipska, Marta, et al.
Publicado: (2013)

Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation
por: Ciancio, Jose I. R., et al.
Publicado: (2019)

Bioinformatics for The Prognostic Value and Function of Cubilin (CUBN) in Colorectal Cancer
por: Wu, Yibin, et al.
Publicado: (2020)

A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease
por: Park, Han Sung, et al.
Publicado: (2020)

CUBN as a Novel Locus for End-Stage Renal Disease: Insights from Renal Transplantation
por: Reznichenko, Anna, et al.
Publicado: (2012)

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant
por: Fyfe, John C., et al.
Publicado: (2018)

Monogenic Causes of Proteinuria in Children
por: Cil, Onur, et al.
Publicado: (2018)

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria
por: Ahluwalia, Tarunveer S., et al.
Publicado: (2018)

Proteinuria in Dent disease: a review of the literature
por: van Berkel, Youri, et al.
Publicado: (2016)

Isolated Proteinuria of Pregnancy: A Call for Action
por: Ghamrawi, Ranine, et al.
Publicado: (2019)

Terahertz spectra of proteinuria and non-proteinuria
por: Xue, Zhenrui, et al.
Publicado: (2023)

CircSPIDR acts as a tumour suppressor in cervical adenocarcinoma by sponging miR-431-5p and regulating SORCS1 and CUBN expression
por: Xu, Junfen, et al.
Publicado: (2021)

Truncus arteriosus: A major cause of proteinuria in children
por: Ghafari, Shamsee, et al.
Publicado: (2011)

Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review
por: Li, Xiaojie, et al.
Publicado: (2022)

Proteinuria in Diabetes
por: Thomas, Stephen, et al.
Publicado: (2000)

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene
por: Chen, Qin, et al.
Publicado: (2018)

Cause-specific mortality in the general population with transient dipstick-proteinuria
por: Nagai, Kei, et al.
Publicado: (2019)

Loss of Calponin 2 causes age‐progressive proteinuria in mice
por: Hsieh, Tzu‐Bou, et al.
Publicado: (2022)

Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans
por: Uglebjerg, Nicoline, et al.
Publicado: (2023)

Childhood-onset dense deposit disease: a rare cause of proteinuria
por: Taranta-Janusz, K., et al.
Publicado: (2013)

Disseminated cryptococcosis, an unusual cause of gross proteinuria in an HIV-infected patient
por: Shavadia, Jay, et al.
Publicado: (2009)

Role of the podocyte in proteinuria
por: Menzel, Sylvia, et al.
Publicado: (2011)

Progress in Pathogenesis of Proteinuria
por: Zhang, Aihua, et al.
Publicado: (2012)

Adult orthostatic proteinuria
por: Uehara, Keita, et al.
Publicado: (2014)

An Unusual Case of Proteinuria
por: Hussain, M. M. Syddiq
Publicado: (1941)

Proteinuria in COVID-19
por: Mohamed, Muner M B, et al.
Publicado: (2021)

Mechanisms of Proteinuria in HIV
por: Hall, Gentzon, et al.
Publicado: (2021)

RENIN PROTEINURIA IN THE RAT : I. THE RELATION BETWEEN THE PROTEINURIA AND THE PRESSOR EFFECT OF RENIN
por: Addis, T., et al.
Publicado: (1949)

Seasonal proteinuria changes in IgA nephropathy patients after proteinuria remission
por: Inagaki, Koji, et al.
Publicado: (2017)

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
por: Zhang, Jian-hui, et al.
Publicado: (2021)

Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations
por: Wasilewska, Anna Maria, et al.
Publicado: (2010)

A case of Type 1 Dent disease presenting with isolated persistent proteinuria
por: Güngör, Tülin, et al.
Publicado: (2020)

A Case with Significant Proteinuria Caused by Secreted Protein from Urothelial Carcinoma
por: Sakakima, Masanori, et al.
Publicado: (2011)

Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review
por: Feng, Chunyue, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_r22f3gnnramlu4882hic84kkdc