Glucose-6-phosphate dehydrogenase(G6PD) deficiency is the most common X- linked inherited disorder and is estimated to affect 400 million people worldwide. But the incidence of this disease is very rare in far-east Asia, especially in Korea. Many drugs and infections cause hemolytic anemia in patients with G6PD deficiency. We experienced a case of G6PD deficiency with chronic hepatitis B. The diagnosis was made by clinical symptoms, laboratory data including serologic test and bone marrow findings. We report a case of G6PD with chronic hepatitis with a brief review of related literatures.
Anemia, Hemolytic ; Asia ; Bone Marrow ; Diagnosis ; Glucose-6-Phosphate* ; Glucosephosphate Dehydrogenase Deficiency ; Hepatitis B ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Incidence ; Korea ; Serologic Tests

Recognition of transient forms of neonatal hypothyroidism is very important to prevent the complications of congenital hypothyroidism. Transplacental passage of TSH-binding inhibitory immunoglobulins(TBII) may result in transient congenital hypothyroidism. Transient neonatal hypothyroidism was found in a daughter of 25-yr-old mother who was receiving levothyroxine for primary hypothyroidism due to Hashimoto's thyroiditis. The neonate was treated with thyroxine which was discontinued at 24 months of age. Thyroid scanning during the neonatal period failed to identify functional thyroid tissue, suggesting thyroid agenesis, whereas thyroid scan performed on subsequent follow-up revealed a normal gland. Sequential measurements of serum autoantibodies directed towards the TSH receptor were made in the patient and her mother. High titers of blocking antibodies were present in the mother(TBII, 82.1%) and newborn(TBII, 85.5%) at 19 days after birth. The levels remained persistently high in the mother, whereas they declined and undetectable in the patient at 23 months of age. The above laboratory and clinical data were compatible with blocking nature of TBII, resulting in transient neonatal hypothyroidism and an athyreotic appearance on scan. The TBII measurement can be a useful predictor of neonatal hypothyroidism as well as confirming the nature of the disease in newborn.
Antibodies, Blocking ; Autoantibodies ; Congenital Hypothyroidism ; Follow-Up Studies ; Humans ; Hypothyroidism* ; Immunoglobulins* ; Infant, Newborn ; Mothers ; Nuclear Family ; Parturition ; Receptors, Thyrotropin ; Thyroid Dysgenesis ; Thyroid Gland ; Thyroiditis ; Thyroxine

PURPOSE:Neopterin is a marker of activation of the T-lymphocyte/monocyte axis. We measured serum neopterin concentration to investigate whether serum neopterin levels are increased in children with Graves' disease and whether serum neopterin measurement can be used as a marker of disease activity in Graves disease. METHODS:Twenty children with Graves' disease(3 boys and 17 girls) and 15 healthy children(7 boys and 8 girls) are enrolled in this study. Serum neopterin concentrations are measured by radioimmunoassay. RESULTS:Neopterin concentration in children with Graves' disease(1.59+/-1.25ng/ml) is not higher than that of healthy children(1.51+/-0.73ng/ml). Neopterin concentration is not influenced by thyroid function and remission state. CONCLUSION: Serum neopterin level in children with Graves' disease can not be used as a marker of activity.
Axis, Cervical Vertebra ; Child* ; Graves Disease* ; Humans ; Neopterin* ; Radioimmunoassay ; Thyroid Gland

Focal segmental glomerulosclerosis (FSGS) is presented as not only one of the primary glomerular diseases but also as a secondary phenomenon for chronic irreversible renal diseases. The main pathological feature of FSGS is the accumulation of extracellular matrix in the glomeruli, for which overexpression of transforming growth factor-beta (TGF-beta) may be responsible for the accumulation of pathological matrix. A new animal model (FGS/NgaKist mouse) of renal failure by spontaneously generating glomerulosclerosis was developed. To elucidate the role of TGF-beta for FSGS, authors observed glomeruli of FGS/NgaKist mouse periodically. FGS/NgaKist mouse strain showed progression of proteinuria and focal glomerular sclerosis with the aging. The glomeruli showed anti IgG, IgA, IgM and complement complex deposits and extracellular matrix accumulation in the mesangium. TGF-beta mRNA and beta2antibody expressions were increased with the advance of glomerular sclerosis. The results suggest the following; FSGS of FGS/NgaKist strain is immune mediated disease and this stimuli on mesangial or endothelial cells may activate TGF-beta gene in their nuclei. This activation, in turn, can cause sclerosis by increasing TGF-beta mRNA transcription followed by secretion of TGF-beta and its action as cytokine for making collagen fibrils.
Aging ; Animals ; Collagen ; Complement System Proteins ; Endothelial Cells ; Extracellular Matrix ; Glomerulosclerosis, Focal Segmental ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Mice* ; Models, Animal ; Proteinuria ; Renal Insufficiency ; RNA, Messenger ; Sclerosis ; Transforming Growth Factor beta