Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton’s disease.

Background and objective: X-linked agammaglo-bulinemia (XLA, also called Bruton’s disease) is is an X-linked recessive disorder characterized by recurrent bacterial infections, usually occurring in the first few years of life. Here, we report the results of a BTK gene mutation screening study that was performed in Taiwanese families with the BTK gene defect to further understand the inheritance patterns of XLA patients in Taiwan and to avoid new cases of XLA within families. Materials and methods: In this study, 52 members of 4 unrelated Taiwanese families with the BTK gene defect were enrolled. We studied the immunologic reports of 6 symptomatic living male patients with confirmed BTK gene defects and correlated the findings with their clinical symptoms. The genomic DNA of the subjects was subjected to direct sequencing mutation analysis. Results: We screened 52 members of 4 unrelated Taiwanese families with the BTK gene defect for BTK gene mutation and found that there were 6 symptomatic living patients with a confirmed defect, 7 symptomatic deceased patients highly suspected to have had the defect and 11 asymptomatic female carriers. Conclusions: This is the first report in a series of the thorough screening for the BTK mutation and its carrier status in 4 unrelated Taiwanese families. One pedigree of our study comprises 4 generations. A complete BTK gene mutation study for the patient’s family members is strongly suggested.

Juvenile scleroderma: experience in one institution.

Background: Scleroderma is a chronic connective tissue disease characterized by hardened or scaly skin and widespread abnormalities of the viscera, which is rare in the pediatric age group. Objective: In this study, we retrospectively reviewed 23 pediatric patients suffering systemic (SSc) and localized (LS) scleroderma. Methods: Twenty-three patients were enrolled and were diagnosed with SSc or LS from March 1993 to September 2009 in the Department of Pediatrics at Mackay Memorial Hospital in Taipei, Taiwan. These diagnoses were based on the criteria of the American College of Rheumatology and the clinicalmanifestations of hard skin. Data recorded included sex, age-at-onset, age-at-diagnosis, laboratory data, family history, trauma history, treatment, and outcomes. Results: Three patients suffered SSc and 20 patients had LS, including 16 girls and 7 boys. Mean age-at-onset was 6.55±3.28 years old. Antinuclear antibodies were positive in 15 patients. Tests for anti-Scl-70 antibodies were positive in 1 patient with SSc. One boy had en coup de sabre combined with a posterior fossa tumor. Twenty-two patients were treated with D-penicillamine. Oral prednisolone and methotrexate were added, if indicated. One girl with LS developed proteinuria after Dpenicillamine treatment. All patients with localized disease ultimately documented a softening of their skin lesions. Conclusions: While scleroderma is rare in children, the prognosis of SSc is poor but better than for adults. The prognosis for LS is usually benign, however, the skin may become progressively indurated and it may not only be a skin disease. No progression from LS to SSc was observed in our study.

Factors for high-risk asthma in Taiwanese children.

Background: Asthma is one of the major causes of death in otherwise healthy young individuals. However, many of these deaths may have been prevented by more aggressive treatment. To determine factors correlated with a high risk of death in Taiwanese children with atopic asthma. Methods: Taiwanese children aged 5-18 years, diagnosed with atopic asthma were enrolled in the study. Atopic asthma was diagnosed and immunoglobulin E (IgE) specific to antigens from any 1 of 8 allergens was measured (i.e. Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat and dog dander, cockroach, egg white, milk and fish). High-risk asthma was defined as asthma requiring admission to a hospital or a visit to an emergency department. The study tried to determine the association of high-risk asthma with allergy-related parameters (e.g. asthma severity, asthma score, total serum IgE levels, serum levels of allergenspecific IgE, eosinophil count) and pulmonary function in Taiwanese children. Results: One thousand one hundred and twenty-two Taiwanese children were evaluated. Those with higher asthma severity, asthma symptom score, serum levels of IgE specific to D. pteronyssinus and D. farinae, higher total serum IgE levels, and lower FEF25-75% (forced expiratory flow, 25-75%) values were considered to be members of the highrisk asthma group. Conclusions: The characterization of risk factors has enabled us to identify high-risk asthma in Taiwanese children, which will facilitate the treatment of these children in the future.