G67(P) Dent's Disease Complicated by an Acute Budd-Chiari Syndrome: Case Report. (4th June 2013)

• Record Type: Journal Article
• Authors: Platt, C; Dudley, J; Hartley, J
• Is Part Of: Archives of disease in childhood. Volume 98:Supplement 1(2013)
• Page Start: A35
• Page End: A35
• Publication Date: 2013-06-04
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2013-304107.079
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antiporter CLCN5 during investigation for nephrotic range proteinuria. He went on to develop a growth hormone deficiency requiring treatment with recombinant growth hormone followed by an acute presentation with hepato-renal failure and thrombotic occlusion of both middle and right hepatic veins consistent with a diagnosis of Budd Chiari syndrome, which required a prolonged period of intensive care. We have identified 3 reports in the literature in which growth hormone therapy has been used to treat short stature associated with Dent's disease. This report confirms that growth hormone deficiency is a recognised finding in this rare disease. There are no previous reports on thrombotic complications associated with either Dent's disease or the use of recombinant growth hormone per se . The cause of the Budd-Chiari syndrome in this case has yet to be fully elucidated, but potentially widens the Dent's phenotype and gives support to the previous observation that this disease is multifaceted with a possible role for as yet unidentified environmental and/or genetic modifying factors.