High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency

Endocrine ◽  
2022 ◽  
Author(s):  
Zhiyuan Zhao ◽  
Lin Lu ◽  
Ou Wang ◽  
Xueyan Wu ◽  
Bang Sun ◽  
...  
Keyword(s):  
Organ Damage ◽  
Chinese Patients ◽  
Hydroxylase Deficiency ◽  
High Incidence

scholarly journals High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency

2021 ◽  
Author(s):  
Zhiyuan Zhao ◽  
Lin Lu ◽  
OU Wang ◽  
Xueyan Wu ◽  
Bang Sun ◽  
...  
Keyword(s):  
Risk Factors ◽  
Enzyme Activity ◽  
Functional Data ◽  
Logistic Regression Model ◽  
Organ Damage ◽  
Chinese Patients ◽  
Hydroxylase Deficiency ◽  
High Incidence ◽  
Independent Risk Factors ◽  
Grade Increase

Abstract Objective To analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with 17α-hydroxylase/17,20-lyase deficiency (17-OHD). Methods A total of 68 patients with 17-OHD were recruited in the Peking Union Medical Hospital from 2003 to 2021.The incidence of hypertension and HMOD was analyzed. CYP17A1 sequencing was performed for all patients and the enzyme activity of CYP17A1 mutant was determined by analyzing the characteristics of mutation itself and the functional data reported previously. A logistic regression model was employed to analyze the factors related to HMOD and the specific damaged organs in patients with 17-OHD. Result(s): Sixty-five patients (95.6%) exhibited hypertension,32 of whom were diagnosed with HMOD in this 17-OHD cohort. c.985_987del TAC ins AA (p. Y329KfsX418) (53.8%) and c.1459_1467del (p. del D487_F489) (11.4%) were the top 2 mutations in this cohort, and no correlation was found between enzyme activity of mutant CYP17A1 and HMOD. Age, hypertension grade, and hypokalemia grade were independent risk factors for HMOD in 17-OHD patients. The risk of HMOD increased by 27% for each additional year of age, 7.7-fold for each one-grade increase in hypertension level, and 1.7-fold for each grade of exacerbation of hypokalemia. Conclusion Patients with 17-OHD experience high incidence of HMOD. There was no correlation between the HMOD occurrence and enzyme activity of mutant CYP17A1.Age, hypertension grade, and hypokalemia grade are independent risks for the occurrence of HMOD.

scholarly journals Circulating CTRP1 Levels Are Increased and Associated with the STOD in Essential Hypertension in Chinese Patients

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Zhengjia Su ◽  
Shuya Tian ◽  
Wei Liang
Keyword(s):  
Essential Hypertension ◽  
Tumor Necrosis Factor ◽  
Healthy Subjects ◽  
Tumor Necrosis ◽  
Target Organ Damage ◽  
Organ Damage ◽  
Left Ventricular ◽  
Chinese Patients ◽  
Enzyme Linked Immunosorbent Assay ◽  
Necrosis Factor

This study aimed to investigate the correlation between complement C1q tumor necrosis factor-related protein 1 (CTRP1) and subclinical target organ damage (STOD) in essential hypertension (EH). 720 patients were enrolled in this study, including 360 healthy subjects and 360 patients with EH. The EH group included 183 patients complicated with STOD and 177 patients without STOD. In the STOD group, there were 87 patients with left ventricular hypertrophy (LVH), 32 patients with microalbuminuria (MAU), and 58 patients with complication of LVH and MAU. Enzyme-linked immunosorbent assay (ELISA) was used to detect the CTRP1, adiponectin (APN), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α). We found that CTRP1 levels were higher in patients with EH than those in healthy subjects; moreover, the level of CTRP1 of patients in the group complicated with EH and STOD was increased compared with EH patients without STOD. CTRP1 levels in the group complicated with LVH and MAU were significantly higher than those in the LVH group and the MAU group. Furthermore, APN, CTRP1, and IL-6 were three factors that influenced the STOD of EH patients, among which CTRP1 and IL6 were positively related with the complication of hypertension and STOD. In conclusion, CTRP1 levels are increased and associated with the STOD (heart and kidney) in essential hypertension, which can be regarded as a novel biomarker in the prediction of prognosis for patients with essential hypertension.

A8629 Isolated Nocturnal Hypertension and Its Association with Subclinical Target Organ Damage in Untreated Chinese Patients

2018 ◽  
Vol 36 ◽  
pp. e188-e189
Author(s):  
Yan Li ◽  
Dongyan Zhang ◽  
Qianhui Guo ◽  
Ying Wang ◽  
Yibang Cheng ◽  
...  
Keyword(s):  
Target Organ Damage ◽  
Organ Damage ◽  
Target Organ ◽  
Chinese Patients ◽  
Nocturnal Hypertension

A1495 Subtypes of Masked Hypertension and Their Associations with Target Organ Damage in Untreated Chinese Patients

2018 ◽  
Vol 36 ◽  
pp. e121-e122
Author(s):  
Dongyan Zhang ◽  
Yibang Cheng ◽  
Qianhui Guo ◽  
Tingyan Xu ◽  
Yan Yang ◽  
...  
Keyword(s):  
Target Organ Damage ◽  
Organ Damage ◽  
Target Organ ◽  
Chinese Patients ◽  
Masked Hypertension

High Incidence of Varicella Herpes Zoster with Use of Bortezomib in Chinese Patients.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 5114-5114
Author(s):  
Yin Tong ◽  
Jie Jing Qian ◽  
Ying Li ◽  
Hai Tao Meng ◽  
Jie Jin
Keyword(s):  
Multiple Myeloma ◽  
Herpes Zoster ◽  
Virus Infection ◽  
Varicella Zoster Virus ◽  
Cell Lymphoma ◽  
Acute Myeloblastic Leukemia ◽  
Chinese Patients ◽  
Varicella Zoster Virus Infection ◽  
Varicella Zoster ◽  
High Incidence

Abstract Bortezomib has been used for patients with refractory and relapsed multiple myeloma, non-Hodgkin lymphoma and leukemia in recent years. It has several complications. Here we report the complication of varicella herpes zoster after using bortezomib, which has higher incidence in Chinese patients. Ten patients were treated with bortezomib in our hematology centre. Among them, seven patients had refractory and relapsed multiple myeloma, two patients had refractory lymphoma (one of T cell lymphoma and one of mantle cell lymphoma) and one patient had refractory acute myeloblastic leukemia. All the patients received bortezomib (1.3 mg/m2) on days 1, 4, 8, and 11 of a 3-week cycle. Patients of multiple myeloma received dexamethasone simultaneously. The combination with liposomal doxorubicin was used on the patients of lymphoma. The patient of acute myeloblastic leukemia received bortezomib in combination with Amsacrine. After one cycle, 6 patients with multiple myeloma responded to treatment (four near complete remission, two partly remission). Two patients with lymphoma reached PR. The patient with leukemia had no response. A remarkable observation in our treatment was the high incidence of varicella herpes zoster. Six out of ten patients developed varicella herpes zoster. Among the six patients, two patients had previous infection of the zoster virus before. Most of the patients had the varicella herpes zoster infection after the complete of one cycle of bortezomib and were disappeared within one month by the use of antiviral treatment. The incidence of varicella hepers zoster after bortezomib was around 13% as reported. But the higher incidence of varicella herpes zoster were observed in our patients. Six of ten patients (60%) developed varicella zoster virus infection during treatment. We considered that the Chinese patients may be more liable to varicella zoster virus infection. And further observations should be made in the future. Prophylactic antiviral medication might be used in predisposed patients who receive bortezomib.

scholarly journals Mutations in CYP11B1 and Congenital Adrenal Hyperplasia in Moroccan Jews

2005 ◽  
Vol 90 (9) ◽  
pp. 5463-5465 ◽  
Author(s):  
Tamar Paperna ◽  
Ruth Gershoni-Baruch ◽  
Kader Badarneh ◽  
Leah Kasinetz ◽  
Ze’ev Hochberg
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Founder Mutation ◽  
Compound Heterozygote ◽  
Single Mutation ◽  
Carrier Rate ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Gene Encoding ◽  
High Incidence ◽  
Private Mutation

Abstract Context: In Jews of Moroccan descent (MJ), the prevalence of steroid 11β-hydroxylase deficiency (11-OHD) is relatively high, with a carrier rate estimated as approximately one in 40. A single mutation in the CYP11B1 gene (encoding 11β-hydroxylase), R448H, was suggested to account for the disease alleles in this population. Study Subjects: We screened 236 healthy MJ for R448H. Results: Only two of the subjects screened were found to be carriers, suggesting that the R448H allele frequency is lower than was assumed previously. An R448H/R448C compound heterozygote patient, diagnosed with 11-OHD, was identified. However, a subsequent screen of MJ subjects for R448C failed to detect any carriers, suggesting that this was a private mutation of this family. Conclusion: The high incidence of 11-OHD in MJ, therefore, is only partially explained by the presence of R448H as a founder mutation.

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