RESUMEN
Wilson’s disease, also known as hepato-lenticular degeneration, is one of the very rare autosomal recessive disorder of copper metabolism.There is impaired liver metabolism of copper thereby causing decreased biliary excretion and deposition of ceruloplasmin levels mainly in the liver, corneas of eyes and brain. Untreated Wilson’s disease has been associated with menstrual irregularities, amenorrhoea, miscarriages and infertility. Hence proper chelationwith strict antenatal surveillance will lead to a successful feto-maternal outcome.
RESUMEN
Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics' age group manifest differently from the adults.' In this case report, Authors have' described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.
RESUMEN
D-pencillamine and zinc remains the first line of treatment for Wilson’s disease in India. Membranous glomerulopathy is most commonly associated with nephrotic syndrome secondary to d penicillamine but isolated cases of minimal change lesions are rarely reported. We report a pediatric patient with Wilson’s disease who developed nephrotic syndrome 9 months after starting D-pencillamine. After stopping D-pencillamine and with only zinc for maintanence, her proteinuria resolved within a week’s time with full dose of steroids for nephrotic syndrome.Wilson disease itself may have tubular dysfunction but glomerulopathy is rare Isolated minimal change disease can occur in a 11 – year old patient yet it is statistically more likely to occur in a much younger age group.The most likely cause of nephrotic syndrome in this child is due to the late complication of D-penicillamine. It also re – emphasizes the importance of early monitoring for proteinuria and the need to shift to an alternative agent if side effects develop.
RESUMEN
Inherited copper toxicosis in Bedlington Terriers (CTBT) is a copper associated hepatopathy caused by an autosomal recessive genetic defect of gene involving copper metabolism. To compare clinical and histopathological findings with previous reports and to expand our knowledge for future genetic studies, 18 terriers were clinically and histopathologically examined in this study. Pedigree information and dietary history were obtained from the owners before a thorough clinical examination was undertaken. Following the examination, a blood sample was collected for haematology, biochemistry and genetic analysis and a urine sample for urinalysis. Seven dogs were also liver biopsied for histopathology, histochemistry and electron microscopy. In this study, plasma alanine transaminase (ALT) activity was highly concordant with DNA marker test results and was the most reliable and sensitive biochemical test measured. Also clinical and biochemical copper toxicosisaffected states were noticed in a genotyped carrier dog. Histopathological and electron microscopy findings showed that the severity of the lesion was more closely correlated to the presence of clinical signs than to hepatic copper concentration. In addition, the involvement of apoptosis and p53 gene was observed in electron microscopy. The general findings related to CT-BT in this study was similar to those previously reported except few differences in histopathology and electron microscopy.