title: A young patient of hereditary renal hypouricaemia presenting with exercise-induced rhabdomyolysis and acute kidney injury.
abstract: Hereditary renal hypouricaemia (HRH) is a genetic disorder commonly associated with exercise-induced acute kidney injury (AKI). We report the case of a 19-year-old man who was admitted to hospital with exercise-induced AKI and who was subsequently shown to have HRH. We believe this to be the first description of a case of HRH co-presenting with rhabdomyolysis.
authors: Department of Biochemistry, Peerless Hospital & B K Roy Research Centre, 360 Panchasayar, Kolkata 700094, West Bengal, India. dr_sutirtha@yahoo.com
authors: Sutirtha
authors: S
authors: Chakraborty
authors: Saubhik
authors: S
authors: Sural
mesh_terms: D058186:Acute Kidney Injury / Q000175:diagnosis* / Q000209:etiology; D003937:Diagnosis, Differential; D015444:Exercise; D006801:Humans; D008297:Male; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012206:Rhabdomyolysis / Q000175:diagnosis* / Q000209:etiology; D014545:Urinary Calculi / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult