Cargando…

Uromodulin-related autosomal-dominant tubulointerstitial kidney disease—pathogenetic insights based on a case

Uromodulin-related autosomal-dominant tubulointerstitial kidney disease (ADTKD-UMOD) is a rare monogenic disorder that is characterized by tubulointerstitial fibrosis and progression of kidney function loss, and may progress to end-stage renal disease. It is usually accompanied by hyperuricaemia and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Reindl, Johanna, Gröne, Hermann-Josef, Wolf, Gunter, Busch, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Genetic Kidney Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452205/ https://www.ncbi.nlm.nih.gov/pubmed/30976393 http://dx.doi.org/10.1093/ckj/sfy094

Ejemplares similares

Persistent pruritus as a rare and potentially serious manifestation of liver involvement in autosomal dominant polycystic kidney disease
por: García-Prieto, Ana, et al.
Publicado: (2018)

Autosomal Dominant Tubulointerstitial Kidney Disease—Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease
por: Chun, Justin, et al.
Publicado: (2020)

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review
por: Lin, Ziqiang, et al.
Publicado: (2018)

Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report
por: Zhang, Li-Ling, et al.
Publicado: (2021)

Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey
por: El-Damanawi, Ragada, et al.
Publicado: (2017)

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland
por: Cormican, S., et al.
Publicado: (2019)

Autosomal dominant tubulointerstitial kidney disease: A review
por: Živná, Martina, et al.
Publicado: (2022)

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease
por: Mabillard, Holly, et al.
Publicado: (2021)

Autosomal Dominant Polycystic Kidney Disease Is a Risk Factor for Posttransplantation Diabetes Mellitus: An Updated Systematic Review and Meta-analysis
por: Culliford, Alice, et al.
Publicado: (2020)

Potential and pitfalls in the genetic diagnosis of kidney diseases
por: Kesselheim, Anne, et al.
Publicado: (2017)

Infected renal cyst presented with pleural effusion in a woman with autosomal dominant polycystic kidney disease
por: Casillas-Sagrado, Ester, et al.
Publicado: (2018)

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics
por: Ars, Elisabet, et al.
Publicado: (2017)

Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD
por: Econimo, Laura, et al.
Publicado: (2022)

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
por: Madariaga, Leire, et al.
Publicado: (2018)

Automatic semantic segmentation of kidney cysts in MR images of patients affected by autosomal-dominant polycystic kidney disease
por: Kline, Timothy L., et al.
Publicado: (2020)

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?
por: Onoe, Tamehito, et al.
Publicado: (2021)

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort
por: Gong, Kunjing, et al.
Publicado: (2021)

Trends of renal diseases in Germany: review of a regional renal biopsy database from 1990 to 2013
por: Zink, Corinna M, et al.
Publicado: (2019)

Incident chronic kidney disease: trends in management and outcomes
por: Perkins, Robert M., et al.
Publicado: (2016)

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD (ADTKD-UMOD)
por: Kemter, Elisabeth, et al.
Publicado: (2017)

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
por: Gast, Christine, et al.
Publicado: (2018)

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
por: Linhares, Natália Duarte, et al.
Publicado: (2018)

Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease
por: Fischer, Anne Sophie, et al.
Publicado: (2018)

Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic
por: Clissold, Rhian L, et al.
Publicado: (2018)

Late-onset Bartter syndrome type II
por: Gollasch, Benjamin, et al.
Publicado: (2017)

Sickle cell disease and albuminuria: recent advances in our understanding of sickle cell nephropathy
por: Audard, Vincent, et al.
Publicado: (2017)

Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
por: Dowen, Frances, et al.
Publicado: (2017)

Prevalence and determinants of microalbuminuria in children suffering from sickle cell anemia in steady state
por: Aloni, Michel N., et al.
Publicado: (2017)

Diabetes, deafness and renal disease
por: Godinho, Iolanda, et al.
Publicado: (2017)

Long-term outcome in inherited nephrogenic diabetes insipidus
por: Sharma, Sonia, et al.
Publicado: (2018)

G1 is the major APOL1 risk allele for hypertension-attributed nephropathy in Central Africa
por: Sumaili, Ernest K, et al.
Publicado: (2018)

Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
por: de Holanda, Maria Izabel, et al.
Publicado: (2019)

UMOD genetic variations and myeloma cast nephropathy
por: Belliere, Julie, et al.
Publicado: (2019)

The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations
por: Bleyer, Anthony J., et al.
Publicado: (2020)

Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease
por: Okada, Eri, et al.
Publicado: (2022)

MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice
por: Kim, Yeawon, et al.
Publicado: (2023)

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease
por: Schaeffer, Céline, et al.
Publicado: (2023)

Chronic kidney disease in children
por: Becherucci, Francesca, et al.
Publicado: (2016)

Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis
por: Trimarchi, H., et al.
Publicado: (2018)

Electronic patient-reported outcomes in clinical kidney practice (ePRO Kidney): a process evaluation of educational support for clinicians
por: Schick-Makaroff, Kara, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_fk9knd5cvl5n2r8v5ia9pn9mes