Hepatolenticular Degeneration ; diagnosis ; therapy ; Humans

Adolescent ; Child ; Female ; Hepatolenticular Degeneration ; diagnosis ; genetics ; pathology ; Humans

INTRODUCTION: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD. METHODS: A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation. RESULTS: Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels <0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (P < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances. CONCLUSION Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin <0.14 g/L was better than that of <0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD.
Humans ; Hepatolenticular Degeneration/diagnosis* ; Copper/analysis* ; Ceruloplasmin/metabolism* ; Repressor Proteins

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.
Alagille Syndrome ; Bile ; Bile Canaliculi ; Cholelithiasis ; Cholestasis* ; Diagnosis ; Diagnosis, Differential ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Jaundice ; Pruritus

Various psychiatric symptoms, including depressive mood, cognitive dysfunction, and psychosis, have been observed in the course of Wilson disease, however both domestic and international case reports on Wilson disease presenting with typical mania before the onset of neurological or hepatic symptoms are rare. Even though the delayed diagnosis of Wilson disease can lead to irreversible impairment, including liver cirrhosis, diagnosis of Wilson disease usually takes more than two years for patients showing psychiatric symptoms as their first manifestation. Without careful observation and adequate understanding of the disease, clinicians may overlook signs and symptoms suggesting Wilson disease in patients showing typical psychiatric symptoms such as mania. In order to promote clinician's vigilance in detecting symptoms and signs of Wilson disease in patients showing symptoms of bipolar disorder, we report on a rare case of a 31-year-old male Wilson disease patient who developed symptoms of typical bipolar disorder before the onset of neurological or hepatic symptoms.
Adult ; Bipolar Disorder* ; Delayed Diagnosis ; Diagnosis ; Hepatolenticular Degeneration* ; Humans ; Liver Cirrhosis ; Male ; Psychotic Disorders

Anemia, Hemolytic ; etiology ; Child ; Diagnosis, Differential ; Female ; Hepatitis ; etiology ; Hepatolenticular Degeneration ; complications ; diagnosis ; Humans

Adolescent ; Adult ; Child ; Child, Preschool ; Early Diagnosis ; Female ; Hepatolenticular Degeneration ; diagnosis ; Humans ; Male ; Young Adult

Child ; Cholecystitis, Acute ; complications ; diagnosis ; Comorbidity ; Hepatolenticular Degeneration ; complications ; diagnosis ; Humans

Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal problems in the patients. In this report, we encountered a young patient who had fracture in the forearm bone. Initially, exception to a previous history of fracture from a motorcycle accident, the patient did not have any medical or drug use history, and laboratory work-ups were insignificant. However, with suspicion on his bone's integrity, bone densitometry was recommended and revealed osteopenic change. To disclose a cause for the change, questions were made to recall any particular history or event, and his complaint of recent vision loss led to ophthalmologic consultation where under slit-lamp test found Kayser-Fleischer ring. Further laboratory work-up found low levels of serum copper and ceruloplasmin and high copper level in 24-hr urine sample that led to the diagnosis of Wilson's disease. Although Wilson's disease has been frequently noticed with considerable musculoskeletal manifestation, it rarity makes the diagnosis illusive to a physician. Hence, despite of its rarity, it is imperative to remember the disease's bony manifestation, and it should be suspected in young patients with demineralized bone when the reason for brittle bone cannot be answered with other better known conditions.
Brain ; Ceruloplasmin ; Copper ; Densitometry ; Diagnosis* ; Forearm ; Hepatolenticular Degeneration* ; Humans ; Liver ; Male ; Metabolism ; Motorcycles

OBJECTIVETo review the clinical features and liver pathology in children with hepatolenticular degeneration.

METHODSClinical manifestations and results of lab tests and liver biopsies of 97 cases diagnosed as hepatolenticular degeneration in Children's Hospital of Fudan University from Jan 1990 to Nov 2006 were reviewed.

RESULTSManifestations of liver malfunction were the most common reason (74%) for their clinic visits. All cases showed liver involvement and nervous system involvement was found in 45%. Positive K-F rings were detected in 63 of 95 cases; ceruloplasmin level was low in 91 of the 94 cases, and 24 hour urinary copper excretion exceeded 100 microg in 25 out of 37 cases who had had this test. Seventeen cases had a liver biopsy. Various levels of inflammation and fibrosis were noted in all 17 biopsies; 8 of the 17 also had steatosis and 3 of the 17 also had glycogen accumulation.

CONCLUSIONLiver abnormality is a consistent feature in children with hepatolenticular degeneration. Corneal K-F rings, serum ceruloplasmin and the 24-hour urinary copper test have limited values for an early diagnosis of the disease. Liver pathology can be a reference in the diagnosis of hepatolenticular degeneration.

Adolescent ; Child ; Child, Preschool ; Female ; Hepatolenticular Degeneration ; diagnosis ; pathology ; Humans ; Liver ; pathology ; Male ; Retrospective Studies