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Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

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Related Experiment Video

Updated: Jul 6, 2026

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Published on: August 27, 2020

[Uromodulin mutation and hyperuricemia].

Eiji Kudo¹, Mitsuo Itakura

¹Department of Human Pathology, Institute of Health Biosciences, University of Tokushima Graduate School.

Nihon Rinsho. Japanese Journal of Clinical Medicine

|April 16, 2008

Summary

Mutations in uromodulin cause kidney disease and hyperuricemia by affecting uric acid excretion. This study explores uromodulin's function and the mechanisms behind these kidney disorders.

Area of Science:

Nephrology
Genetics
Urology

Context:

Uromodulin mutations are linked to familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease type 2 (MCKD2).
These conditions present with hyperuricemia due to impaired uric acid excretion.
The precise physiological role of uromodulin remains incompletely understood.

Purpose:

To investigate the mechanisms by which mutant uromodulin leads to uricemic underexcretion and hyperuricemia.
To explore the physiological function of uromodulin in kidney health.
To review current hypotheses and experimental evidence regarding FJHN/MCKD2 pathogenesis.

Summary:

The study examines experimental data on the intracellular trafficking of mutant uromodulin.
Histopathological findings from renal biopsies of affected patients are analyzed.

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Published on: October 3, 2020

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Last Updated: Jul 6, 2026

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Published on: August 27, 2020

Quantitative SERS Detection of Uric Acid via Formation of Precise Plasmonic Nanojunctions within Aggregates of Gold Nanoparticles and Cucurbit[n]uril

Quantitative SERS Detection of Uric Acid via Formation of Precise Plasmonic Nanojunctions within Aggregates of Gold Nanoparticles and Cucurbit[n]uril

Published on: October 3, 2020

Hypotheses concerning the pathogenesis of FJHN/MCKD2 are discussed, alongside supporting and conflicting experimental data.

Impact:

This research aims to elucidate the function of uromodulin in renal physiology.
Understanding these mechanisms may lead to novel therapeutic strategies for hyperuricemia and related kidney diseases.
The findings contribute to the broader knowledge of genetic kidney disorders and urate metabolism.