The Ewha Medical Journal

"Hypouricemia"

Case Report

[English]

Severe Acute Kidney Injury with Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12: Chang Min Cho, Hae Il Cheong, Jung Won Lee; Ewha Med J 2020;43(2):35-38. Published online April 30, 2020; DOI: https://doi.org/10.12771/emj.2020.43.2.35

Abstract

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. A defect in the SLC22A12 genes, which encodes the renal uric acid transporter, URAT1, is the known major causes of this disorder. Most patients are clinically silent, but exercise-induced acute kidney injury, urolithiasis or hematuria may develop. The patient presented with azotemia, decreased urine output and abdominal pain without vigorous exercise past history. He was diagnosed with rapidly progressive glomerulonephritis at admission, but low serum uric acid level was persisted. Since the diagnosis of the patient was familial renal hypouricemia, we performed sequence analysis of the SLC22A12 gene in all family members. We report a case of 17-year-old boy with severe acute kidney injury with familial renal hypouricemia confirmed by genotyping of SLC22A12.

Citations

Citations to this article as recorded by

Renal hypouricemia type 2 with SLC2A9 compound heterozygous variants: a case report of recurrent acute kidney injury triggered by low-intensity exercise
Niranjana Rekha Paladugu, Muralinath Vukkadala
Frontiers in Nephrology.2024;[Epub] CrossRef

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Original Article

[English]

The Clinical Significance of Hypouricemia in Patients with Liver Cirrhosis: Sun Young Yi; Ihwa Ŭidae chi 1997;20(1):7-11. Published online July 24, 2015; DOI: https://doi.org/10.12771/emj.1997.20.1.7

Abstract
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Background/Aims

Since he liver is the central organ of uric acid metabolism, I investigated the utility of serum uric acid level as an indicator of the residual liver function and prediction of survival in patients with liver cirrhosis.

Method

I measured the liver function test including uric acid level in the patients with chronic liver disease(41 patients with chronic hepatitis and 66 patients with liver cirrhosis). The serum uric acid level was analyzed for prognostic value.

Results

The serum uric acid level was significant decreased in patients with Child-Pugh class B and C group(group III) compared with Child-Pugh class A(group II) or chronic hepatitis(group I)(p<0.001). There was no difference of the level of uric acid between alcoholic and nonalcoholic cirrhotic patients(p=0.09). The serum uric acid level was correlated inversely with serum bilirubin level in patients with cirrhosis. The sensitivity and specificity of hypouricemia in detecting liver function status in patients with liver cirrhosis were 62.5% and 100%, respectively.

Conclusion

The hypouricemia is one of sensitive factors to assess liver function and predictive value of survival in liver cirrhosis.