Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Jeannin, Guido ^a   Chiarelli, Nicola ^b   Gaggiotti, Mario ^a   Ritelli, Marco ^b   Maiorca, Paolo ^a   Quinzani, Stefano ^b   Verzeletti, Federica ^a   Possenti, Stefano ^a   Colombi, Marina ^b   Cancarini, Giovanni ^a  

^a SPEDALI CIVILI   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Exercise induced acute renal failure; p.Arg380Trp; p.Gly216Arg; Renal hypouricemia; SLC2A9 mutations

Indexed keywords

CREATINE KINASE; CREATININE; GLUCOSE TRANSPORTER; PARACETAMOL; PREDNISONE; PROTEIN SLC2A9; UNCLASSIFIED DRUG; URATE TRANSPORTER; URIC ACID;

ABDOMINAL PAIN; ACUTE KIDNEY FAILURE; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CREATININE BLOOD LEVEL; DIARRHEA; EXERCISE INDUCED ACUTE RENAL FAILURE; FEVER; GENOTYPE PHENOTYPE CORRELATION; HEMATURIA; HEMODIALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERPHOSPHATEMIA; HYPOKALEMIA; HYPOURICEMIA; INTERNATIONAL NORMALIZED RATIO; INTERSTITIAL NEPHRITIS; LOW BACK PAIN; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PROTHROMBIN TIME; URIC ACID BLOOD LEVEL; URINALYSIS; VOMITING; YOUNG ADULT;

ACUTE KIDNEY INJURY; ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXERCISE; FEMALE; GENOTYPE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; ORGANIC ANION TRANSPORTERS; ORGANIC CATION TRANSPORT PROTEINS; PAKISTAN; PHENOTYPE; RECURRENCE; RENAL DIALYSIS; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URIC ACID; URINARY CALCULI; YOUNG ADULT;

EID: 84892153409     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-3     Document Type: Article

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