ABSTRACT
Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.
ABSTRACT
Objective To investigate the effects of vitamin K1 in the adjuvant treatment of spasmodic cough in pertussis syndrome children,and its impacts on length of hospital stay.Methods 87 pertussis syndrome children were randomly divided into two groups,among which 41 cases in the control group were treated with the therapies such as anti -infection,respiratory support,antispasmodic,expectorant et al,while 46 cases in the treatment group were treated additionally with vitamin K1 on the basis of the control group.Then compared the duration and hospital stay of the two groups with spasmodic cough.Results The disappeared time of spasmodic cough in the treatment group was (7.22 ±1.33)d and hospital stay was (9.52 ±1.84)d,which in the control group were (15.51 ±2.73)d,(18.71 ± 3.30)d respectively,and there were statistically significant differences(t =-18.310,-16.269,all P <0.01).In the treatment group,the total effective rate was 93.5%,there were 18 cases with markedly effective,25 cases with effective and 3 cases with ineffective.Correspondingly,there were 7 cases markedly effective,23 cases effective, 11 cases ineffective,and total efficiency rate was only 73.1% in the control group,the difference was statistically significant(χ2 =4.285,P <0.05 ).Conclusion Vitamin K1 to alleviate spasmodic cough in children has a significant effect,which can reduce the duration of the cough time and hospital stay in pertussis syndrome children, and also can improve the clinical effect.