Gucev, Zoran and Pop-Jordanova, Nada and Calovska, V and Tasic, Velibor and Slavevska, Nevenka and Laban, Nevenka and Noli, MC and Lepori, MB and Loudianos, G (2011) Acute gallbladder hydrops and arthritis: unusual initial manifestations of Wilson’s disease (WD). Contributions, Sec. Biol. Med. Sci., 32 (2). pp. 307-315. ISSN 0351–3254
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Abstract
Wilson disease (WD) is an autosomal recessive disorder, in which
copper is deposited in the liver, brain, cornea and kidneys. The clinical presentation is
variable, with fully expressed disease manifesting cirrhosis, neurologic damage and
Kayser-Fleischer (K-F) ring on the cornea.
A 24-year-old patient developed right upper quadrant pain with a palpable
mass and a swelling of the right talocrural articulation. X-rays were uneventful, but the
routine examination of hepatic enzymes discovered a 6–8 fold increase in SGPT, SGOT
and AST. Antibodies for hepatitis B, C were normal, as well as the ANA, ANCA,
antimytochondrial and anti-smooth muscle antibodies. Ultrasound of the abdomen revealed
extremely dilated hepatic, cystic ducts as well as gallbladder. A large, oedematous
gallbladder with yellow green bile was removed, the liver was found to be cirrhotic, but
as the operative bleeding was abundant a biopsy was not done. Serum ceruloplasmin
was low [0.160 g/l (normal 0.204–0.407)], serum copper 12.7 μmol/l (11.0–24.4), transaminasis:
always very high, in the last months normal/slightly elevated. Urine copper:
1.0 μmol/24h (> 9.44). As first seen the proband had tremor, dysarthria, dystonia and KF
ring on the cornea. After 10 months of treatment with penicillamine his transaminases
normalized, the tremor, dysarthria, dystonia initially got worse and then ameliorated.
The coagulation times are ameliorated, but not yet normalized. Mutational analysis has
shown that the proband is homozygote for c.3207 C- > A, p.H1069Q while his parents
are heterozygotes. His sister is a healthy non-carrier. In brief, we describe an unusual
presentation of WD, with gallbladder hydrops and talocrural arthritis in a patient with
complete clinical manifestations of the disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Wilson disease, Kayser-Fleischer rings, gallbladder hydrops. arthritis, p.H1069Q mutation. |
| Subjects: | Medical and Health Sciences > Basic medicine Medical and Health Sciences > Other medical sciences |
| Divisions: | Faculty of Medical Science |
| Depositing User: | Biljana Kosturanova |
| Date Deposited: | 04 Nov 2015 11:32 |
| Last Modified: | 04 Nov 2015 11:32 |
| URI: | https://eprints.ugd.edu.mk/id/eprint/14166 |
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