Clinical Characteristics and Molecular Analysis of 21 Chinese Children with Congenital Agammaglobulinemia

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

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Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

Frontiers in Genetics ◽

10.3389/fgene.2021.652376 ◽

2021 ◽

Vol 12 ◽

Author(s):

Chongjun Wu ◽

Ting Xiong ◽

Zhongjin Xu ◽

Chunlei Zhan ◽

Feng Chen ◽

...

Keyword(s):

Blood Cell ◽

Red Blood Cell ◽

Clinical Characteristics ◽

Hemoglobin Concentration ◽

Chinese Children ◽

Test Results ◽

Test Analysis ◽

Genetic Characteristics ◽

Significant Difference ◽

Gene Test

ObjectiveTo investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.MethodsThe clinical data and gene test results of children with HS were collected. All patients were diagnosed by gene test results, and the laboratory results were obtained before splenectomy. The data of red blood cell (RBC), hemoglobin (HB), mean red blood cell volume (MCV), mean red blood cell hemoglobin (MCH), mean red blood cell hemoglobin concentration (MCHC), and hematocrit (HCT) were statistically analyzed according to different mutation genes. Statistical methods for comparison between groups Mann–Whitney test analysis, two-terminal p < 0.05 was considered significant difference.ResultsA total of 15 children were enrolled in our hospital, and 14 variants were found (nine variants have not been reported before), including 10 ANK1 mutations (seven ANK1 truncated mutations) and five SPTB mutations. Patients with ANK1 mutations had more severe anemia than those with SPTB mutations (significantly lower RBC, HB, MCHC, and HCT).ConclusionThis is one of the few studies on the genetic and clinical characteristics of children with HS in China. This study identified the unique genetic and clinical characteristics of Chinese children with HS and analyzed the pathogenic genotype–phenotypic association. The results confirmed that the anemia degree of HS patients caused by ANK1 was more serious than that of patients with SPTB deficiency. However, further study of the correlation between genotype and phenotype requires a larger sample size.

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Ocular Dirofilariasis Case in Thailand Confirmed by Molecular Analysis to Be Caused by Dirofilaria immitis

American Journal of Tropical Medicine and Hygiene ◽

10.4269/ajtmh.21-0764 ◽

2021 ◽

Author(s):

Yuwadee Somsap ◽

Patcharaporn Boonroumkaew ◽

Attawit Somsap ◽

Rutchanee Rodpai ◽

Lakkhana Sadaow ◽

...

Keyword(s):

Molecular Analysis ◽

Male Patient ◽

Molecular Identification ◽

Causative Agent ◽

Clinical Characteristics ◽

Dirofilaria Immitis ◽

Anterior Part ◽

Zoonotic Disease ◽

Tissue Growth ◽

Cuticular Surface

A rare ocular dirofilariasis case along with the clinical characteristics, treatment, and outcome is reported. A whitish roundworm (10.6 cm long and 0.5 mm width) emerged from the pterygium, a triangular tissue growth on the cornea of the eye, of a male patient. The worm had a rounded anterior part, mouth without lips, smooth cuticular surface, and short rounded posterior tail with spicules: these features suggested that it was a male Dirofilaria sp. Molecular identification confirmed that the worm belonged to Dirofilaria immitis. This is the first molecular confirmation that D. immitis is a causative agent of ocular dirofilariasis in Thailand: dirofilariasis is a newly emerging zoonotic disease. Physicians should be alert to zoonotic filarial worms and knowledgeable about treatment of this disease.

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