Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation

Pediatrics

Volumn 127, Issue 6, 2011, Pages

  Shima, Yuko ^a   Nozu, Kandai ^b   Nozu, Yoshimi ^b   Togawa, Hiroko ^a   Kaito, Hiroshi ^b   Matsuo, Masafumi ^b   Iijima, Kazumoto ^b   Nakanishi, Koichi ^a   Yoshikawa, Norishige ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Acute renal failure; GLUT9; Posterior reversible encephalopathy syndrome; Proximal tubule; Urate

Indexed keywords

CREATININE; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 9; NIFEDIPINE; UNCLASSIFIED DRUG; URATE;

ABDOMINAL PAIN; ALLELE; ARTICLE; BLOOD PRESSURE REGULATION; CASE REPORT; CHILD; CREATININE BLOOD LEVEL; DISEASE ASSOCIATION; EXERCISE INDUCED ACUTE RENAL FAILURE; EXON; FEMALE; GENE; GENE DUPLICATION; HALLUCINATION; HEADACHE; HETEROZYGOSITY; HUMAN; HYPERTENSION; HYPOURICEMIA; KIDNEY DISEASE; LOW BACK PAIN; MUTATIONAL ANALYSIS; NAUSEA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME; PRIORITY JOURNAL; RENAL HYPOURICEMIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; URAT1 GENE; URIC ACID BLOOD LEVEL; VISUAL DISORDER; VOMITING;

ACUTE KIDNEY INJURY; BASAL GANGLIA DISEASES; CEREBELLAR ATAXIA; CHILD; CODON, NONSENSE; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; RECURRENCE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; SEVERITY OF ILLNESS INDEX; URINARY CALCULI;

EID: 79957907450     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-2592     Document Type: Article

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