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OBJECTIVE@#To analyze the clinical characteristics and genetic features of a family affected with isolated proteinuria.@*METHODS@#Clinical data of the family was collected. Mutations of 191 renal disease-related genes in the proband were screened with next generation sequencing (NGS). Sanger sequencing was used to verify suspected mutations in his family members and 100 healthy controls. The impact of the mutation was predicted with online software SIFT. Frequency of the mutation was searched in databases including 1000 Genomic Project, ESP and ExAC.@*RESULTS@#NGS and Sanger sequencing showed that the proband harbored compound heterozygous mutations of ADCK4 gene including c.748C>G (p.Asp250His) and c.1041G>T (p.Cys347*), which were respectively inherited from his mother and father whom were both non-symptomatic.@*CONCLUSION@#The proband may have ADCK4-associated glomerulopathy due to the compound heterozygous mutations of the ADCK4 gene.
Subject(s)
Humans , DNA Mutational Analysis , Family , High-Throughput Nucleotide Sequencing , Mutation , Proteinuria , GeneticsABSTRACT
Objective To explore the relationship between adipocyte fatty acid binding protein (A-FABP) and lower limb vascular disease (LLVD) in the elderly with type 2 diabetes(T2DM).Methods Bilateral lower limb vessels were checked by the High Resolution Color Doppler in all the subjects,including 40 healthy subjects as control (group A),126 T2DM patients.42 T2DM patients had no LLVD (group B),40 had mild LLVD (group C),and 44 had severe LLVD (group D).The levels of plasma A-FABP,blood glucose,lipid profiles,HOMA-IR,hypersensitive C reactive protein (hs CRP),and e-glomerular filtration rate were determined.Results The levels of plasma A-FABP were in the following ascending order of group A(4.5± 1.7)μg/L＜group B(6.1±2.1)μg/L＜group C (7.2 ± 2.3)μg/L ＜ group D (8.4 ± 3.2)μg/L (P＜ 0.01).A-FABP levels elevated along with the decrease of ABI and the increase of L IMT.Multiple logistic regression analysis showed that A FABP levels was main influencing factor of lower limb vascular disease (LLVD) in the elderly with type 2 diabetes.LDL C,HbA1c,HOMR-IR,hs-CRP were the predictive factors for the plasma A-FABP levels in the elderly with T2DM after multiple stepwise regression analysis.Conclusions For elder T2DM patients,the level of plasma A FABP is correlated with the degree of LLVD,and plays an important role in the progress of LLVD.
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d, suggesting that the mutation rate of SDHB gene in sporadic Chinese patients with pheochromocytoma might be around 3%.