A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction

Internal Medicine
Akihiro KumaYutaka Otsuji

Abstract

Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. We herein report the case of a family with UAKD caused by a novel mutation (C135G) in the UMOD gene. A 31-year-old woman had a low estimated glomerular filtration rate (59.7 mL/min per 1.73 m(2)). Her father, grandfather and paternal aunt had received maintenance hemodialysis therapy since their 40's. This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function.

References

May 23, 1998·Human Molecular Genetics·K ChristodoulouC Constantinou Deltas
May 20, 1999·American Journal of Human Genetics·F ScolariG Casari
Mar 12, 2003·The Journal of Clinical Endocrinology and Metabolism·J J O TurnerR V Thakker
Aug 6, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Anthony J BleyerThomas C Hart
Oct 2, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Franca Serafini-CessiDaniela Cavallone
Oct 22, 2003·Journal of the American Society of Nephrology : JASN·Karin DahanYves Pirson
Oct 23, 2003·Human Molecular Genetics·Luca RampoldiGiorgio Casari
Sep 24, 2004·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Kunitoshi IsekiShuichi Takishita
Dec 3, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Sigrid TinschertLuca Rampoldi
Apr 22, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Anthony J BleyerHoward Trachtman
Jun 29, 2005·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Xosé M LensVicente Barrio-Lucía
May 22, 2007·Journal of the American Society of Nephrology : JASN·Friedhelm Hildebrandt, Weibin Zhou
Nov 16, 2007·Kidney International·S H NasrV D D'Agati
Oct 28, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Elisa BenettiLuisa Murer
May 12, 2009·Nature Genetics·Anna KöttgenCaroline S Fox
Feb 13, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Péter SchäfferAnthony J Bleyer
Nov 13, 2010·Nephron. Clinical Practice·Anthony J BleyerStanislav Kmoch
Mar 18, 2011·Human Mutation·Janita ThusbergMauno Vihinen
Aug 27, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Guillaume BolléeBertrand Knebelmann
Jul 11, 2012·American Journal of Nephrology·Xin WeiWei Chen
Dec 1, 2012·Case Reports in Nephrology and Urology·Mayuka NakayamaAtsuo Taniguchi
Jun 1, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Jonathan L MoskowitzPeter Kotanko
Jul 5, 2013·Annals of Laboratory Medicine·Mi-Na LeeChang-Seok Ki

❮ Previous
Next ❯

Citations

Mar 8, 2018·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·L B LopesJ R Almeida

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Clinical Journal of the American Society of Nephrology : CJASN
Jonathan L MoskowitzPeter Kotanko
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Justine BacchettaPierre Cochat
© 2021 Meta ULC. All rights reserved