Distribution of serum adiponectin isoforms in pediatric patients with steroid-sensitive nephrotic syndrome.

BACKGROUND: Serum adiponectin circulates in three multimeric isoforms: high-molecular-weight (HMW), middle-molecular-weight (MMW), and low-molecular-weight (LMW) isoforms. Potential change in the circulating adiponectin levels in patients with nephrotic syndrome (NS) remain unknown. This study aimed to assess the levels of total adiponectin and the distribution of its isoforms in pediatric patients with NS. METHODS: We sequentially measured total adiponectin and each adiponectin isoform levels at the onset of NS, initial remission, and during the remission period of the disease in 31 NS patients. We also calculated the ratios of HMW (%HMW), MMW (%MMW), and LMW (%LMW) to total adiponectin incuding 51 control subjects. RESULTS: The median of total serum adiponectin levels in patients were 36.7, 36.7, and 20.2 µg/mL at the onset, at initial remission, and during the remission period of NS, respectively. These values were significantly higher than those in control subjects. The median values of %HMW, %MMW, and %LMW values were 56.9/27.0/14.1 at the onset, 62.0/21.8/13.4 at the initial remission, and 58.1/21.7/17.5 at during the remission period of NS, respectively. Compared with control subjects, %HMW at initial remission and %MMW at the onset were high, and the %LMW values at the onset and at initial remission were low. CONCLUSIONS: In patients with NS, total serum adiponectin levels increase at the onset of the disease, and the ratio of adiponectin isoforms changes during the course of the disease. Further studies are needed to delineate the mechanisms between proteinuria and adiponectin isoforms change.

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

BACKGROUND: Glycogen storage disease type 0a (GSD 0a), caused by GYS2 mutations, has a broad phenotypic spectrum, mostly associated with hypoglycemia. This disease has been characterized by the inability to store glycogen in the liver, leading to no hepatomegaly. Although the prevention of hypoglycemia has been considered the first therapeutic goal, the long-term complications remain unclear. In addition, few studies summarized clinical or biochemical features or examined genotype-phenotype correlation. CASE PRESENTATION: A 4-year-old Japanese boy was admitted to our hospital because of hypoglycemia. We suspected GSD 0a based on recurrent irritability episodes before feeding, fasting ketotic hypoglycemia, postprandial hyperglycemia/hyperlactatemia, and no hepatomegaly. Mutation analyses revealed novel mutations (p.His610fs and deletion of exons 8-10) in the GYS2 gene. At 5 years old, his growth and development are normal. Fasting symptoms and hypoglycemia remain controlled by dietary management. REVIEW OF LITERATURE: We summarized the clinical and biochemical features of 33 patients with GSD 0a and 27 different mutations in the GYS2 gene. Nonspecific fasting symptoms (lethargy, drowsiness, nausea, and irritability) were found in 39% of patients, whereas 41% were asymptomatic. All patients had a combination of fasting ketotic hypoglycemia and postprandial hyperglycemia/hyperlactatemia. Hepatomegaly and hepatic steatosis were observed in 12% and 73% of patients. There was no genotype-phenotype correlation in patients with GSD 0a. CONCLUSION: This is a clinical report of a Japanese GSD 0a patient with novel GYS2 mutations and a review of cases. As secondary hepatic disorders may occur due to postprandial hyperglycemia, the treatment's ultimate goal is to prevent both hypoglycemia and hyperglycemia.

[A case of lupus anticoagulant hypoprothrombinemia syndrome following adenovirus gastroenteritis and mycoplasma pneumonia].

We describe a previously healthy 9-year-old girl who had multiple purpura several days after acute adenovirus gastroenteritis and mycoplasma pneumonia. Initial laboratory evaluation revealed a prolonged prothrombin time (PT) and APTT, low complement levels (C4, CH50), and positive immune complex (C1q) in her serum. Platelet count, fibrinogen, and other routine blood chemistry tests were normal. The prolonged APTT was not corrected by mixture of the patient's plus normal plasma. Clotting activities of factors II, V, VIII, IX, X, XI, and XII reduced. Further examinations revealed the presence of lupus anticoagulant (LA), phosphatidylserine-dependent anti-prothrombin antibodies (aPS/PT), and anticardiolipin antibodies. Mycoplasma pneumonia was treated by minocycline and the patient's skin lesions disappeared spontaneously within a week. During follow-up, she showed no other bleeding symptoms, and no signs of SLE or other autoimmune diseases. Four weeks after admission to our hospital, blood coagulation tests and serum complements normalized. Clotting activities of factors and antiphospholipid antibodies were not detected, half year later. The bleeding in this case was associated with acquired hypoprothrombinemia caused by antiphospholipid antibodies following acute adenovirus gastroenteritis and mycoplasma pneumonia.