Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1

Fujinaga, Shuichiro; Itō, Akira; Nakagawa, Mayu; Watanabe, Tsuyoshi; Ohtomo, Yoshiyuki; Shimizu, Toshiaki

doi:10.1007/s00431-013-1986-7

Cited by 20 publications

(10 citation statements)

References 16 publications

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“…PRH is associated with low sUA levels, nephrolithiasis, and exercise-induced acute failure (EIARF). Several authors have found an association between some neurological alterations of the posterior reversible encephalopathy syndrome and EIARF, supporting the hypothesis of a relation between changes of sUA levels and altered cognitive function [ 65 , 66 , 67 ].…”

Section: Mechanisms Underlying the Relation Between Ua And Cognitimentioning

confidence: 68%

Uric Acid and Cognitive Function in Older Individuals

et al. 2018

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Hyperuricemia has been recognized as an independent cardiovascular risk factor in epidemiological studies. However, uric acid can also exert beneficial functions due to its antioxidant properties, which may be particularly relevant in the context of neurodegenerative diseases. In this paper, we critically revise the evidence on the relationship between serum uric acid levels and cognitive function in older individuals, focusing on the etiology of cognitive impairment (Alzheimer’s disease, Parkinson’s dementia, and vascular dementia) and on the interactive connections between uric acid, dementia, and diet. Despite high heterogeneity in the existing studies, due to different characteristics of studied populations and methods of cognitive dysfunction assessment, we conclude that serum uric acid may modulate cognitive function in a different way according to the etiology of dementia. Current studies indeed demonstrate that uric acid may exert neuroprotective actions in Alzheimer’s disease and Parkinson’s dementia, with hypouricemia representing a risk factor for a quicker disease progression and a possible marker of malnutrition. Conversely, high serum uric acid may negatively influence the disease course in vascular dementia. Further studies are needed to clarify the physio-pathological role of uric acid in different dementia types, and its clinical-prognostic significance.

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Section: Mechanisms Underlying the Relation Between Ua And Cognitimentioning

confidence: 68%

Uric Acid and Cognitive Function in Older Individuals

et al. 2018

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“…While most patients are asymptomatic, episodes of the urolithiasis and exercise-induced acute kidney injury (EAKI) are sometimes observed [3, 4]. The increased risk of urolithiasis is due to hyperuricosuria and hypercalciuria [5]. Furthermore, the pathogenesis of EAKI remains unclear.…”

Section: Introductionmentioning

confidence: 99%

Exercise-Induced Acute Kidney Injury in a Police Officer with Hereditary Renal Hypouricemia

Shimizu

Wakabayashi

Totsuka

et al. 2019

Case Rep Nephrol Dial

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Hereditary renal hypouricemia is characterized by hypouricemia with hyper-uric acid clearance due to a defect in renal tubular transport. Patients with hereditary renal hypouricemia have a higher risk of exercise-induced acute kidney injury (EAKI) and reduced kidney function. Although the best preventive measure is avoiding exercise, there are many kinds of jobs that require occupational exercise. A 27-year-old male police officer suffered from stage 3 AKI after performing a 20-m multistage shuttle run test. His mother had previously been diagnosed as having renal hypouricemia at another facility. The patient had reported having hypouricemia during a health check at a previous police station, but his serum uric acid concentration was within the normal range at our hospital. After treatment, he recovered from EAKI and exhibited low serum uric acid and hyper-uric acid clearance. Since the patient desired to continue his career requiring strenuous exercise, it was difficult to establish a preventive plan against the recurrence of EAKI. Patients with hereditary renal hypouricemia who must undergo strenuous occupational anaerobic exercise are at higher risk of developing EAKI than other workers. The risks of EAKI among patients with hypouricemia should be considered when undergoing physical occupational training.

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“…The histological finding of interlobular artery intimal thickening in a normotensive RHUC2 patient, attributed to repeated vasoconstriction, renders further support to this pathophysiological concept, which is also backed by CT findings showing patchy wedgeshaped enhancement in renal parenchyma [18,24] . Interestingly, evidence for a more systemic oxidant imbalance at presentation with AKI accumulates: 3 cases of posterior reversible encephalopathy syndrome have been recently reported in RHUC1 and RHUC2 patients, and one Japanese RHUC1 individual exhibited reversible T-wave inversion on ECG; together, these reports are suggestive of cerebral and coronary artery constriction, respectively [19,[24][25][26] . That being said, other disorders associated with hypouricemia, such as hereditary xanthinuria, are not usually associated with AKI.…”

Section: Discussionmentioning

confidence: 97%

A Novel Homozygous <b><i>SLC2A9</i></b> Mutation Associated with Renal-Induced Hypouricemia

et al. 2016

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Background: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported. Methods: The current report describes the clinical history, biochemical and molecular genetics findings of a native Austrian family with RHUC2. The propositus presented with 2 episodes of exercise-induced AKI and exhibited profound hypouricemia. Mutational screening of the SLC22A12 and SLC2A9 genes was performed. Results: The molecular analyses revealed the homozygous c.512G>A transition that leads to the p.Arg171His missense substitution in SLC2A9, confirming the diagnosis of RHUC2. Segregation study of the causal mutation revealed that the mother and elder sister were heterozygous carriers, whereas the younger sister was found to be homozygous. Conclusion: We report the identification of a novel mutation in SLC2A9 as the cause of RHUC2 in a native Austrian family. We show that glucose transporter 9 mutations cause severe hypouricemia in homozygous individuals and confirm the high risk of AKI in male individuals harbouring these mutations. In our literature review, we provide an overview of the putative underlying pathophysiology, potential renal complications, findings on kidney biopsy as well as potential long-time renal sequelae.

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Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1

Cited by 20 publications

References 16 publications

Uric Acid and Cognitive Function in Older Individuals

Uric Acid and Cognitive Function in Older Individuals

Exercise-Induced Acute Kidney Injury in a Police Officer with Hereditary Renal Hypouricemia

A Novel Homozygous <b><i>SLC2A9</i></b> Mutation Associated with Renal-Induced Hypouricemia

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