A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy

CEN Case Reports
Akira IguchiIchiei Narita

Abstract

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disorder that is characterized by hyperuricemia and chronic renal failure and results in end-stage renal failure. FJHN is caused by mutations in the UMOD gene, which encodes uromodulin. Uromodulin contains three epidermal growth factor (EGF)-like domains, a domain of eight cysteine residues (D8C), and a zona pellucid-like domain. Over 90 % of UMOD mutations are missense mutations, and over 80 % exist in exon 4, which encodes both D8C and the EGF-like domains. A 56-year-old woman was diagnosed with hyperuricemia with a serum uric acid level of 7.5 mg/dL, and stage III chronic kidney disease (CKD) with a serum creatinine level of 1.12 mg/dL and an estimated glomerular filtration rate of 39.9 mL/(min 1.73 m(2)). The patient had a family history of hyperuricemia and stage IV CKD; both the patient and her affected family members had a novel mutation in the UMOD gene: c.C518G (p.P173R), located between the EGF-like domains and D8C. This mutation, along with previously reported nearby mutations, causes a clinically mild phenotype of FJHN. It is important that physicians consider the diagnosis of FJHN in patients with a family history of hyperuricemia associate...Continue Reading

References

Feb 13, 2001·Biochemical and Biophysical Research Communications·D CavalloneF Serafini-Cessi
Oct 22, 2003·Journal of the American Society of Nephrology : JASN·Karin DahanYves Pirson
Oct 23, 2003·Human Molecular Genetics·Luca RampoldiGiorgio Casari
Nov 16, 2007·Kidney International·S H NasrV D D'Agati
Aug 27, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Guillaume BolléeBertrand Knebelmann

❮ 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.