Related Experiment Videos
Wilson's disease--early onset and lessons from a pediatric cohort in India
1Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
Insights
Wilson's disease (WD) in children often presents early with hepatic or neurologic symptoms. Early detection through KF ring screening and family screening is crucial for managing this curable genetic disorder.
Area of Science:
- Pediatric Hepatology
- Neurology
- Medical Genetics
Background:
- Wilson's disease (WD) is an inherited disorder of copper metabolism.
- Early diagnosis and treatment are essential to prevent irreversible organ damage.
Purpose of the Study:
- To investigate the clinical characteristics of Wilson's disease in pediatric patients.
- To evaluate the effectiveness of treatment and identify challenges in disease management.
Main Methods:
- Retrospective analysis of case records for 25 children diagnosed with Wilson's disease.
- Inclusion of clinical features, investigations, family screening, and treatment details.
- Follow-up assessment of patient outcomes and treatment side effects.
Main Results:
- Mean age of onset was 6.8 years for hepatic and 8 years for neurologic presentations.
- Diverse clinical presentations included hepatic, neurologic, hemolytic anemia, and polyarthritis.
- Majority of patients showed improvement, but residual symptoms and complications were noted.
Conclusions:
- High copper intake, potentially from cooking utensils, may contribute to early symptom onset and persistence of Kayser-Fleischer (KF) rings.
- High index of suspicion, KF ring screening, and family screening are vital for early detection.
- Current therapeutic strategies, including zinc and low-dose penicillamine, may be insufficient for prophylaxis in some cases.
Objective:
To study the clinical profile at presentation and on follow up in cases of Wilson's disease presenting at this hospital.
Methods:
Case records of children diagnosed as Wilson's disease (WD) admitted in the hospital or attending the Pediatric outpatient department were retrospectively studied with regard to clinical features, investigations, and family screening at the time of presentation. Note was made of the treatment received by the patients. Clinical profile on follow up was recorded with respect to side effects of treatment, and whether patient improved, deteriorated or remained the same, either from the records or by calling the patient for a follow up, if possible.
Results:
Analysis of 25 children with Wilson's disease comprising 19 index cases and 6 siblings detected on family screening, revealed mean age of onset for the hepatic presentation was 6.8 years versus 8 years for the neurologic patient. A quarter of index cases has a family history strongly suspicious for Wilson disease which has been earlier overlooked. Clinical presentation was hepatic in 5 patients, purely neurologic in 5, mixed hepatic and neurologic in 9, hemolytic anemia in 1 and polyarthritis in 1. Patients received treatment with D penicillamine, zinc, pyridoxine and low copper diet. Follow upon 18 patients revealed improvement in majority, residual dysarthria in seven,prolonged persistence of KF rings in 15 and complications like renal tubular acidosis with osteopenia in one.
Conclusion:
The early age of onset of symptoms, prolonged KF rings persistence and progression of symptoms among sibs despite therapy is of interest as it may be related to a high copper intake, which may be due to the practice of using brass or copper utensils for cooking Since a large number of children has either a past history of jaundice or sibling deaths due to jaundice or cirrhosis, a high index of suspicion and screening for KF rings is emphasized as a simple and cost effective way of detecting a curable disease at an early stage and family screening of all index cases is imperative. Progression of symptoms among sibs on oral zinc and low dose pencillamine suggests inadequacy of zinc alone for prophylaxis.