ObjectiveTo recognize the convulsion caused by hypoglycemia, and to analyze its genotype and clinical phenotype, so as to deepen the understanding of hyperinsulinemia.MethodFull exon detection were performed on 2 children with hypoglycemia and convulsions, who had been treated with antiepileptic drugs for 1 year in pediatric neurology department, Henan Provincial People’s Hospital in 2012 and 2014 respectively, but with poor curative effect.ResultABCC8 gene mutations were found in a child. The mutations located in Chromosome 11, with the nucleic acid changes of c.4607C>T (exon38) and the amino acid change of p.A1536V, rs745918247. The inheritancemode of ABCC8 gene could be autosomal dominant or autosomal recessive inheritance. Both of the parents were wild type on this genelocus. The gene mutation is associated with type 1 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The other child was carrying GLUD1 gene mutation, witch is located in chromosome 10, with the nucleic acid changes of c.1498G>A (exon12) and the amino acid change of p.A500T. The inheritance mode of GLUD1 gene is autosomal dominant andthe child’s parents were both wild type. This gene mutationis associated with type 6 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The 2 mutations have not been reported, which are new mutations.ConclusionMutations in these 2 gene loci may be the underlying cause of hypoglycemic convulsions, and are the best explanation for the poor convulsionscontrol of antiepileptic drugs.
ObjectiveTo improve the understanding of pulmonary alveolar microlithiasis (PAM).MethodsA male patient and his brother were considered PAM by chest image and further examined by gene sequencing. The patient was confirmed through percutaneous lung biopsy. The clinical data of 172 patients from 108 pieces of literature were collected and reviewed from PubMed. The clinical presentation, radiological character, pathological finding, diagnosis and differential diagnosis, treatment and prognosis of the disease were analyzed and summarized.ResultsThe results of gene sequencing revealed the homozygous mutation of c.910A>T in exon 8 of SLC34A2 gene. The genetic mutation encoding the sodium phosphate co-transporter Npt2b (SLC34A2) was considered as the major pathogenesis. Mutations appeared to cluster in exon 8, c.910A>T was the most common mutation observed in Chinese cases. The most obvious symptoms were dyspnea, followed by cough, chest pain, fever, fatigue, and hemoptysis. The clinical signs consisted of cyanosis, clubbed fingers, moist rales and velcro crackles in the lungs. The typical presentation of PAM on a chest X ray was a ‘sandstorm’ appearance. The most frequent high-resolution CT findings of PAM were diffuse ground-glass attenuation and subpleural linear calcifications. Lung biopsy showed lamellar microliths deposited in alveolar spaces and the pleura. Etidronate had an imprecise role in the treatment of PAM. Lung transplantation was the ultimate effective treatment option.ConclusionsPAM is a rare autosomal recessive inherited lung disease. The characteristics of the disease should be fully understood in order to achieve early diagnosis and early intervention. Lung transplantation is recommended for patients of end stage.