OBJECTIVE: To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome. METHODS: The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out. RESULTS: The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved. CONCLUSION The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.
DNA Copy Number Variations ; Hearing Loss, Sensorineural/genetics* ; Humans ; Hypoparathyroidism/genetics* ; Infant, Newborn ; Kidney/abnormalities* ; Male ; Syndrome ; Urogenital Abnormalities/genetics*

Objective:To investigate the status of frailty and activities of daily living (ADL) in maintenance hemodialysis (MHD) patients, and to explore the effect of frailty phenotype on ADL.Methods:The patients who underwent MHD in Kidney Disease Center of the First Affiliated Hospital from March 2019 to March 2020 were enrolled in this study. The demographic and laboratorial data were collected by cross-sectional survey method. Fried frailty phenotype scale and ADL scale were used to evaluate the frailty and ADL, respectively. The differences of basic data and different frailty phenotypes between the normal function group and the function decline group were compared in terms of ADL, physical self-maintenance ability and instrumental ADL ability. Pearson correlation analysis was used to analyze the correlation between frailty and ADL, and binary logistic regression analysis was used to analyze the influencing factors of ADL.Results:A total of 676 MHD patients were included in this study, including 434 males (64.2%) and 242 females (35.8%). The age was (59.2±19.4) years old, and the median dialysis age was 59.0 (25.3, 110.0) months. There were 159 frailty patients (23.5%), 230 pre-frailty patients (34.0%), and 287 non-frailty patients (42.5%). The ADL was decreased in 163 patients (24.1%), including 131 patients (19.4%) with decreased physical self-maintenance ability and 161 patients (23.8%) with decreased instrumental ADL ability. Pearson correlation analysis showed that the frailty score was positively correlated with total ADL score ( r=0.728, P<0.001), physical self-maintenance ability score ( r=0.669, P<0.001) and instrumental ADL ability score ( r=0.729, P<0.001). Binary logistic regression analysis results showed that older age and lower physical activity, fatigue, slowed steps and lower grip strength in the frailty phenotypes were the independent influencing factors of ADL, physical self-maintenance ability and instrumental ADL ability (all P<0.05). Conclusions:The prevalence of frailty is 23.5% in MHD patients, and 24.1% of MHD patients have decreased ADL. Elder age and lower physical activity, fatigue, reduced step counts, and lower grip strength in frailty phenotypes are the independent influencing factors for poor ADL, poor physical self-maintenance ability and poor instrumental ADL ability.