title: Cockayne syndrome with recurrent acute tubulointerstitial nephritis.
abstract: A 12-year-old girl, who had been diagnosed as having Cockayne syndrome (CS), was admitted for emaciation and dehydration. On admission the patient had mild chronic renal failure (glomerular filtration rate: GFR 50 mL/min) and hyperuricemia. After rehydration, allopurinol was commenced for her hyperuricemia. Then, her renal function rapidly deteriorated (GFR 20 mL/min) with enhancement of proximal tubular dysfunction and hypertension. A renal biopsy showed that the patient had acute tubulointerstitial nephritis (ATIN). Based on this diagnosis, allopurinol was stopped and prednisolone was started (2 mg/kg per day), following which the renal tubular function improved. However, the proteinuria intensified to become nephrotic syndrome. After 1 month the patient developed a gastric ulcer. Famotidine was commenced but GFR deteriorated and renal proximal tubular dysfunction re-occurred. The renal pathology was evaluated by referring to the previous reports of renal pathology in CS. It is suggested that rapid deterioration of the renal function in CS patients might be the result of ATIN. In addition, the present nephrotic syndrome seemed to be accompanied by ATIN, as in other reports.
authors.affiliation: Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Funaki
authors.forename: Shori
authors.initials: S
authors.lastname: Takahashi
authors.forename: Hitohiko
authors.initials: H
authors.lastname: Murakami
authors.forename: Kensuke
authors.initials: K
authors.lastname: Harada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitamura
mesh_terms: D000208:Acute Disease; D058186:Acute Kidney Injury / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D003057:Cockayne Syndrome / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007678:Kidney Glomerulus / Q000648:ultrastructure; D046529:Microscopy, Electron, Transmission; D009395:Nephritis, Interstitial / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D011239:Prednisolone / Q000627:therapeutic use; D012008:Recurrence
chemical_list: D000493:Allopurinol; D011239:Prednisolone