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URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

F. Claverie-Martin, J. Trujillo-Suarez, H. Gonzalez-Acosta, C. Aparicio, ML. Justa Roldan, B. Stiburkova, K. Ichida, MA. Martín-Gomez, M. Herrero Goñi, M. Carrasco Hidalgo-Barquero, V. Iñigo, R. Enriquez, E. Cordoba-Lanus, VM. Garcia-Nieto, . ,

. 2018 ; 481 (-) : 83-89. [pub] 20180224

Jazyk angličtina Země Nizozemsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18033282

Grantová podpora
NV15-26693A MZ0 CEP - Centrální evidence projektů

BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. Most mutations have been identified in Japanese patients, and only a few have been detected in Europeans. METHODS: We report clinical, biochemical and genetics findings of fourteen Spanish patients, six Caucasians and eight of Roma ethnia, diagnosed with idiopathic RHUC. Two of the patients presented exercise-induced acute renal failure and another one had several episodes of nephrolithiasis and four of them had progressive deterioration of renal function, while the rest were asymptomatic. RESULTS: Molecular analysis revealed SLC22A12 mutations in ten of the patients, and SLC2A9 mutations in the other four. A new heterozygous SLC22A12 missense mutation, c.1427C>A (p.A476D), was identified in two affected members of the same family. The rest of the patients presented homozygous, heterozygous or compound heterozygous mutations that have been previously identified in patients with RHUC; SLC22A12 p.T467M and p.L415_G417del, and SLC2A9 p.T125M. Expression studies in Xenopus oocytes revealed that c.1427C>A reduced UA transport but did not alter the location of URAT1 protein on the plasma membrane. CONCLUSIONS: The biochemical and clinical features of our patients together with the genetic analysis results confirmed the diagnosis of RHUC. This is the first report describing SLC22A12 and SLC2A9 mutations in Spanish patients.

Citace poskytuje Crossref.org

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$a BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. Most mutations have been identified in Japanese patients, and only a few have been detected in Europeans. METHODS: We report clinical, biochemical and genetics findings of fourteen Spanish patients, six Caucasians and eight of Roma ethnia, diagnosed with idiopathic RHUC. Two of the patients presented exercise-induced acute renal failure and another one had several episodes of nephrolithiasis and four of them had progressive deterioration of renal function, while the rest were asymptomatic. RESULTS: Molecular analysis revealed SLC22A12 mutations in ten of the patients, and SLC2A9 mutations in the other four. A new heterozygous SLC22A12 missense mutation, c.1427C>A (p.A476D), was identified in two affected members of the same family. The rest of the patients presented homozygous, heterozygous or compound heterozygous mutations that have been previously identified in patients with RHUC; SLC22A12 p.T467M and p.L415_G417del, and SLC2A9 p.T125M. Expression studies in Xenopus oocytes revealed that c.1427C>A reduced UA transport but did not alter the location of URAT1 protein on the plasma membrane. CONCLUSIONS: The biochemical and clinical features of our patients together with the genetic analysis results confirmed the diagnosis of RHUC. This is the first report describing SLC22A12 and SLC2A9 mutations in Spanish patients.
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$a Trujillo-Suarez, Jorge $u Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
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$a Gonzalez-Acosta, Hilaria $u Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
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$a Aparicio, Cristina $u Nefrología Pediátrica, Hospital Infantil Niño Jesús, Madrid, Spain.
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$a Justa Roldan, Maria L $u Servicio de Pediatría, Hospital Infantil Miguel Servet, Zaragoza, Spain.
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$a Stiburkova, Blanka $u Institute of Inherited Metabolic Disorders, Charles University, General University Hospital in Prague, Prague, Czech Republic; Institute of Rheumatology, Prague, Czech Republic.
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$a Ichida, Kimiyoshi $u Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
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$a Martín-Gomez, Maria A $u Unidad de Nefrología-Hemodialisis, Hospital de Poniente, Almeria, Spain.
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$a Herrero Goñi, Maria $u Nefrología Pediátrica, Hospital de Cruces, Baracaldo, Spain.
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$a Iñigo, Victoria $u Unidad de Nefrología, Hospital Son Llàtzer, Palma de Mallorca, Spain.
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