1.Analysis of clinical and histological features of late onset lupus nephritis
Juan HUANG ; Liping WANG ; Xiaoqing CHEN ; Miaohua QIU ; Jie LUO ; Jian CHEN
Chinese Journal of Geriatrics 2018;37(3):280-283
Objective To compare the clinical and histological characteristics between elderly lupus nephritis (LN) patients and adult LN patients.Methods Patients diagnosed with LN from January 2011 to October 2016 at Fuzong Medical Hospital were enrolled in this retrospective study.Recruited patients were assigned into two groups according to age:the elderly-onset group (aged over 60,n=25) and the adult-onset group (aged below 60,n=50).Clinical features,laboratory manifestations,histological data and treatment responses were analyzed and compared.Results The average ages at the onset of systemic lupus erythematosus (SLE) in the elderly-onset group and the adult onset group were (62.2± 3.1)years and (33.2±10.0) years (t=18.4,P=0.000),respectively.The female to male ratio was lower in the elderly group compared with that in the adult group (1.3 ∶ 1.0 vs.5.3 ∶ 1.0,x2=6.908,P=0.009).The prevalence of hypertension in the elderly-onset group was much higher than that in the adult-onset group (x2=9.375,P=0.002).Also,elderly patients showed significantly higher serum creatinine levels (t=80.644,P=0.000) and lower rates of positive anti-dsDNA (x2 =6.304,P=0.012).Additionally,elderly onset individuals were correlated with higher scores of glomerular sclerosis (80%,x2 =14.109,P=0.000),fibrous crescents(36%,x2 =9.040,P=0.003),tubular atrophy (92%,x2=7.440,P=0.006),interstitial fibrosis (92%,x2=7.440,P=0.006) and chronicityindex (3.4±1.9,t=3.648,P 0.000),compared with the adult onset group.Conclusions There are clinical and histological differences between elderly and adult LN patients.LN in the elderly is characterized by a low female to male ratio,a low prevalence of positive anti-dsDNA,high blood pressure,severe kidney injury,and chronic lesions in renal pathology.
2.Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion.
Dan WANG ; Chaosheng LU ; Jiamin SHI ; Yuan CHEN ; Mianmian ZHU ; Qiu WANG ; Miaohua RUAN
Chinese Journal of Medical Genetics 2023;40(6):733-736
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion.
METHODS:
A fetus with a 6q26q27 microduplication and a 15q26.3 microdeletion diagnosed at the First Affiliated Hospital of Wenzhou Medical University in January 2021 and members of its pedigree were selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were analyzed by G-banding karyotyping and chromosomal microarray analysis (CMA), and its maternal grandparents were also subjected to G-banding karyotype analysis.
RESULTS:
Prenatal ultrasound had indicated intrauterine growth retardation of the fetus, though no karyotypic abnormality was found with the amniotic fluid sample and blood samples from its pedigree members. CMA revealed that the fetus has carried a 6.6 Mb microduplication in 6q26q27 and a 1.9 Mb microdeletion in 15q26.3, and his mother also carried a 6.49 duplication and a 1.867 deletion in the same region. No anomaly was found with its father.
CONCLUSION
The 6q26q27 microduplication and 15q26.3 microdeletion probably underlay the intrauterine growth retardation in this fetus.
Female
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Humans
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Pregnancy
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East Asian People
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Fetal Growth Retardation/genetics*
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Karyotype
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Pedigree
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Prenatal Diagnosis
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Sequence Deletion
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Chromosome Duplication