Volume : 6, Issue : 2, February - 2017

Clinical Profile of patients with Wilson Disease - Our experience

Dr. A. Aravind, Dr. E. Kandasamy Alias Kumar

Abstract :

<p>&nbsp;<b style="text-align: justify;"><span lang="EN-IN" style="font-family: &quot;Times New Roman&quot;, serif; color: rgb(13, 13, 13); background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">Aim</span></b><span lang="EN-IN" style="text-align: justify; font-family: &quot;Times New Roman&quot;, serif; color: rgb(13, 13, 13); background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">: To analyse clinical profile of patients with Wilson disease. <b>Materials and methods</b>: 20 patients diagnosed to have Wilson &nbsp;disease were included in the study . various clinical profile and investigation done were analysed .<b>Results</b>: Age distribution:13-30yrs; male;15, female:5;Born of consanguineous marriage:18 ; Clinical Presentation: Jaundice:13, UGI bleed:2; Neurological features:6 ; KF ring:18</span></p> <p class="MsoNormal" style="margin-top:0in;margin-right:0in;margin-bottom:0in;&#10;margin-left:-11.35pt;margin-bottom:.0001pt;text-align:justify;line-height:normal"><span lang="EN-IN" style="font-family: &quot;Times New Roman&quot;, serif; color: rgb(13, 13, 13); background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial;">Investigation: Serum ceruloplasmin &lt;20mgs :17; AST and ALT were not significantly elevated; 24hrs copper excretion &gt;100micrograms :4 . USG abdomen: CLD and Splenomegaly :6 , Coarse echo pattern of liver:7, Fatty liver :1 Gallstones:2 ; Normal liver:6 Upper GI endoscopy:GrIIesophageal varix:2; PortalHypertensive gastropathy :5 Normal OGD :13 ; Other findings: Short stature:1, ITP :1,Mitral valve prolapse: 2 Pulmonary tuberculosis:1 renal stones:2;Megaloblastic bone marrow:2.<b>Conclusion</b>: Consanguinity plays an important role in high frequency of the disease among the affected families. Extra hepatic manifestations of Wilson disease can also occur hence carefully analysed. Careful follow up of patients and appropriate treatment is mandatory for better outcome.<o:p></o:p></span></p>