title: Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia.
abstract: Hereditary hypouricemia is a rare disorder characterized by extremely low serum uric acid levels caused by excessive urinary excretion due to an inherited tubular defect in urate handling. Exercise-induced acute kidney injury (AKI) is the main complication of this disorder, though AKI may also be induced by other factors. A 7-month-old boy with hereditary hypouricemia developed AKI associated with severe dehydration caused by rotavirus gastroenteritis. He also showed severe hypernatremia and metabolic acidosis and received continuous renal replacement therapy for 3 days. He showed no signs of hydronephrosis or urolithiasis. However, hypouricemia was noted when his renal function recovered (serum uric acid <0.6 mg/dl). Analysis of the urate transporter 1 gene revealed a homozygous nonsense mutation in exon 4 (c.774G > A, p.W258X). Both parents were heterozygous for the mutation and his younger brother was later determined to have severe hypouricemia (0.6 mg/dl).
  
  
  CONCLUSIONS
  Uric acid is an essential factor for scavenging oxidative stressors. In this patient, severe dehydration may have directly caused pre-renal AKI, but susceptibility to oxidative stressors under severe dehydration, as well as exercise, may also contribute to AKI. Careful attention should be paid to dehydration, especially in young children, to avoid the development of AKI in patients with hereditary hypouricemia.
authors: Department of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan, kamei-k@ncchd.go.jp.
authors: Koichi
authors: K
authors: Kamei
authors: Masao
authors: M
authors: Ogura
authors: Shingo
authors: S
authors: Ishimori
authors: Hiroshi
authors: H
authors: Kaito
authors: Kazumoto
authors: K
authors: Iijima
authors: Shuichi
authors: S
authors: Ito
mesh_terms: D058186:Acute Kidney Injury / Q000175:diagnosis* / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D003681:Dehydration / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005759:Gastroenteritis / Q000150:complications* / Q000175:diagnosis; D056726:Genetic Association Studies; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D027361:Organic Anion Transporters / Q000235:genetics; D027701:Organic Cation Transport Proteins / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors; D012400:Rotavirus Infections / Q000150:complications* / Q000175:diagnosis
chemical_list: D018389:Codon, Nonsense; D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human
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