title: Dent's disease complicated by an acute Budd-Chiari syndrome.
abstract: We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated with recombinant growth hormone. He later presented acutely with hepatorenal failure and thrombotic occlusion of the middle and right hepatic veins consistent with a diagnosis of Budd-Chiari syndrome, which required a prolonged period of intensive care. The diagnosis of Dent's disease should be considered early in boys with nephrotic-range proteinuria in the absence of clinical oedema and hypoalbuminaemia to allow for the timely introduction of strategies, such as a high-citrate diet, to preserve renal function. The measurement of urinary β-2 microglobulin has been shown by this case to be a more reliable and specific marker of tubular dysfunction than the urinary retinol-binding protein.
authors.affiliation: Department of Paediatrics, Gloucestershire Royal Hospitals NHS Foundation Trust, Gloucester, UK.
authors.forename: Caroline
authors.initials: C
authors.lastname: Platt
authors.forename: Lyda
authors.initials: L
authors.lastname: Jadresic
authors.forename: Jan
authors.initials: J
authors.lastname: Dudley
authors.forename: Jane L
authors.initials: JL
authors.lastname: Hartley
mesh_terms: D001706:Biopsy; D006502:Budd-Chiari Syndrome / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D057973:Dent Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004393:Dwarfism, Pituitary / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D042241:Early Diagnosis; D005500:Follow-Up Studies; D006440:Hemofiltration; D006801:Humans; D007668:Kidney / Q000473:pathology; D007677:Kidney Function Tests; D008111:Liver Function Tests; D008297:Male; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D001613:beta 2-Microglobulin / Q000652:urine
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels; D001613:beta 2-Microglobulin