Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism.

Wilson disease is an autosomal recessive disorder with copper metabolism. In Japan, the standard treatment is the administration of copper chelating agents, such as D-penicillamine and trientine. In this study, the authors used zinc acetate to treat Japanese patients with Wilson disease and investigated its efficacy.

Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay.

Wilson's disease (WND) is an autosomal recessive disorder of copper (Cu) accumulation leading to liver and/or brain damage. Oral chelating agents and diet are effective in treating WND. However, once irreversible damage has occurred, the effect of treatment is diminished and the patient's quality of life is compromised.

[Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].

A 5-year-old boy visited a hospital because of macrocephalus, mental retardation and hepatic dysfunction, and was suspected to have Wilson's disease since his father had this disease. The serum level of ceruloplasmin was low, but urinary copper excretion was not increased markedly. He was treated with D-penicillamine.

[A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation].

Crigler-Najjar syndrome type I is an autosomal recessive disorder with severe unconjugated hyperbilirubinemia, caused by the complete absence of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT) activity. The authors reported a 24-year-old male with this syndrome. He had severe icterus from the age of 4 days, and was diagnosed as having Crigler-Najjar syndrome type I at 51 days after birth.

[Genetic disorders of copper transport--diagnosis and new treatment for the patients of Wilson's disease].

Wilson's disease and Menkes disease are inherited genetic disorders of copper metabolism. Each disease results from the absence or dysfunction of homologous copper-transporting ATPases present in the trans-Golgi network of cells. The Wilson ATPase transports copper into the hepatocyte secretory pathway for incorporation into ceruloplasmin and excretion into the bile.

Wolff-Parkinson-White (WPW) syndrome in isolated noncompaction of the ventricular myocardium (INVM).

Isolated noncompaction of the ventricular myocardium (INVM) is a rare morphological abnormality caused by cessation of the compaction of the loose interwoven meshwork of myocardial fibers during intrauterine life. Three cases of INVM, including 2 siblings, were diagnosed from 2-dimensional echocardiographic findings of Wolff-Parkinson-White syndrome type B to which INVM can be attributed.

Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I.

Background: Patients with Crigler-Najjar syndrome, type I (CNS-I) have an inherited absence of hepatocellular bilirubin uridine diphosphate-glucuronosyltransferase activity, which results in severe unconjugated hyperbilirubinaemia, often causing kernicterus and death in infancy or childhood.

Methods: Our patient is a 19-year-old Japanese man with CNS-I diagnosed by the complete absence of the hepatocellular enzyme in a liver biopsy and genotyping. The efficacies of the removal of protein-bound (PBB) and unbound (UB) unconjugated bilirubin by phototherapy, plasma perfusion and liver transplantation were compared in the patient.

Two families with Wilson disease in which siblings showed different phenotypes.

We investigated two families with Wilson disease in which siblings showed different clinical phenotypes and different ages at onset. In Family 1, the second and fourth male children demonstrated onset of the neurological type of Wilson disease at 16 and 28 years of age, respectively, and the first female child developed the hepatic type at 38 years of age. In Family 2, the second male child showed neurological symptoms at 32 years of age and was diagnosed as having the hepatoneurological type of Wilson disease; then the 35-year-old first female child was found to have the hepatic type by familial screening.

Mouthpiece versus facemask for delivery of nebulized salbutamol in exacerbated childhood asthma.

We compared the bronchodilator response to salbutamol (albuterol) delivered by a compressed air nebulizer through a mouthpiece and via a facemask in 18 asthmatic children, to determine the most appropriate delivery method. Patients using a mouthpiece had significantly better mean percent increases in forced expiratory volume in 1 sec (FEV1) and in forced vital capacity (FVC) than those using a facemask 30 min after inhalation (FEV1, 56.4 +/- 32.