Back to Search
Start Over
Dent's disease complicated by an acute Budd-Chiari syndrome.
- Source :
-
BMJ case reports [BMJ Case Rep] 2014 Jan 07; Vol. 2014. Date of Electronic Publication: 2014 Jan 07. - Publication Year :
- 2014
-
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.
- Subjects :
- Biopsy
Budd-Chiari Syndrome diagnosis
Budd-Chiari Syndrome therapy
Child
Child, Preschool
Chloride Channels genetics
Combined Modality Therapy
DNA Mutational Analysis
Dent Disease diagnosis
Dent Disease genetics
Dent Disease therapy
Dwarfism, Pituitary complications
Dwarfism, Pituitary diagnosis
Dwarfism, Pituitary genetics
Early Diagnosis
Follow-Up Studies
Hemofiltration
Humans
Kidney pathology
Kidney Function Tests
Liver Function Tests
Male
Portasystemic Shunt, Transjugular Intrahepatic
beta 2-Microglobulin urine
Budd-Chiari Syndrome complications
Dent Disease complications
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 2014
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 24398869
- Full Text :
- https://doi.org/10.1136/bcr-2013-200937