Primary aldosteronism(PA)is a common disorder,and the condition is underdiagnosed;the prevalence could reach one-third in patients with hypertension,and thyroid carcinoma is the second most common cancer,with papillar...Primary aldosteronism(PA)is a common disorder,and the condition is underdiagnosed;the prevalence could reach one-third in patients with hypertension,and thyroid carcinoma is the second most common cancer,with papillary thyroid carcinoma(PTC)accounting for 90%of cases.Lymph node metastasis is common in PTC.However,pressure symptoms,including invasion of major local veins and the vagus nerve,are extremely rare.The association between primary hyperaldosteronism and PTC is rare.The interaction between genetic and environmental factors could explain the association.Whether the coexistence of PTC and PA influences the prognosis of PTC is to be explained.The association between PTC and PA with contralateral metastasis,vagus nerve involvement,and invasion to the internal jugular vein is extremely rare.We conducted a comprehensive literature search for relevant articles addressing the possible association of PA and PTC,and we found only 17 cases reported in the literature.The majority were women(10:6 with one study not reporting the gender),the ages ranged from 48 years to 77 years,and perioperative diagnosis was possible in 8 cases.Physicians might need to screen patients with PTC and local invasion for PA.展开更多
Primary aldosteronism(PA)is the most common form of secondary hypertension,with its main manifestations including hypertension and hypokalemia.Early identification of PA is extremely important as PA patients can easil...Primary aldosteronism(PA)is the most common form of secondary hypertension,with its main manifestations including hypertension and hypokalemia.Early identification of PA is extremely important as PA patients can easily develop cardiovascular complications such as atrial fibrillation,stroke,and myocardial infarction.The past decade has witnessed the rapid advances in the genetics of PA,which has shed new light on PA treatment.While surgery is the first choice for unilateral diseases,bilateral lesions can be treated with mineralocorticoid receptor antagonists(MRAs).The next-generation non-steroidal MRAs are under investigations.New medications including calcium channel blockers,macrophage antibiotics,and aldosterone synthase inhibitors have provided a new perspective for the medical treatment of PA.展开更多
BACKGROUND Adrenal incidentaloma(AI)has been frequently encountered in the clinical setting.It has been shown that primary aldosteronism(PA)or subclinical Cushing’s syndrome(SCS)are the representative causative disea...BACKGROUND Adrenal incidentaloma(AI)has been frequently encountered in the clinical setting.It has been shown that primary aldosteronism(PA)or subclinical Cushing’s syndrome(SCS)are the representative causative diseases of AI.However,the coexistence of PA and SCS has been reportedly observed.Recently,we encountered a case of AI,in which PA and SCS coexisted,confirmed by histopathological examinations after a laparoscopic adrenalectomy.We believe that there were some clinical implications in the diagnosis of the present case.CASE SUMMARY A 58-year-old man presented with lower right abdominal pain with a blood pressure of 170/100 mmHg.A subsequent computed tomography scan revealed right ureterolithiasis,which was the cause of right abdominal pain,and right AI measuring 22 mm×25 mm.After the disappearance of right abdominal pain,subsequent endocrinological examinations were performed.Aldosterone-related evaluations,including adrenal venous sampling,revealed the presence of bilateral PA.In addition,several cortisol-related evaluations showed the presence of SCS on the right adrenal adenoma.A laparoscopic right adrenalectomy was then performed.The histopathological examination of the resected right adrenal revealed the presence of a cortisol-producing adenoma,while CYP11B2 immunoreactivity was absent in this adenoma.However,in the adjacent nonneoplastic adrenal,multiple CYP11B2-positive adrenocortical micronodules were detected,showing the presence of aldosterone-producing adrenocortical micronodules.CONCLUSION Careful clinical and pathological examination should be performed when a patient harboring AI presents with concomitant SCS and PA.展开更多
Background: At present, in clinical practice, patients with primary hyperaldosteronism (PA) are mainly treated by surgery or medical drugs (spironolactone/spironolactone, epridone, etc.). Some studies show that the le...Background: At present, in clinical practice, patients with primary hyperaldosteronism (PA) are mainly treated by surgery or medical drugs (spironolactone/spironolactone, epridone, etc.). Some studies show that the left ventricular hypertrophy of patients can be significantly improved after treatment. However, at present, the relevant research is very limited, and there is still controversy on the improvement of cardiac structure and function between the two treatment methods. No reliable conclusions have been drawn. Objective: We conducted this meta-analysis to compare the improvement of cardiac structure of patients after surgical treatment and drug treatment, so as to clarify the efficacy of surgical treatment and drug treatment for PA patients. Methods: In order to examine the cardiac color ultrasound data of PA patients receiving surgical treatment and drug therapy (spironolactone, antisterone), randomized or observational studies were searched through Pubmed, Cochrane Library, and Embase. Meta-analysis was then carried out on the comprehensive and individual outcomes. The ROINBS-I scale is utilized to assess the offset risk of study inclusion. Outcomes: A total of nine studies involving 799 patients with PA into meta analysis, according to the results of the surgery in the treatment of patients with PA, left ventricular mass index (LVMI) changes in value (drop range) is significantly higher than drug therapy (Mean difference IV: —2.32, P In 6 studies, after surgical treatment of interventricular septal thickness (IVSD), changes in value (drop range) are also higher than drug therapy (Mean difference IV: —0.35, P In 2 studies, the surgical treatment of plasma aldosterone concentration (PAC) drop degree is superior to drug therapy (Mean difference IV: —12.63, P < 0.05), and blood pressure to improve the degree of surgery and drug treatment has no obvious difference. Conclusions: This meta-analysis result confirmed that after medical and surgical treatment of PA can obviously improve the patient’s blood pressure, and no difference between the two treatments. But for the heart structure improvement, including left ventricular hypertrophy and interventricular septum thickness, surgical treatment effect is significantly better than the medicine treatment, so the adrenalectomy can be used as unilateral PA optimal choice of treatment.展开更多
To the Editor:Primary aldosteronism(PA)is a common cause of secondary hypertension,accounting for 5%to 20%of hypertensive patients.[1]The two main subtypes are aldosterone-producing adenoma(APA)and idiopathic hyperald...To the Editor:Primary aldosteronism(PA)is a common cause of secondary hypertension,accounting for 5%to 20%of hypertensive patients.[1]The two main subtypes are aldosterone-producing adenoma(APA)and idiopathic hyperaldosteronism(IHA).Differentiating these subtypes is crucial for selecting appropriate treatment.[2]However,the current gold standard for subtype diagnosis,adrenal venous sampling(AVS),is invasive,costly,and not universally available.[3]This study aimed to develop a noninvasive prediction score using clinical and imaging parameters to distinguish APA from IHA.展开更多
Background:Since the diagnostic value of aldosterone to renin ratio(ARR)calculated by plasma renin concentration(PRC)or plasma renin activity(PRA)is still inconclusive,we conducted a meta-analysis by systematically re...Background:Since the diagnostic value of aldosterone to renin ratio(ARR)calculated by plasma renin concentration(PRC)or plasma renin activity(PRA)is still inconclusive,we conducted a meta-analysis by systematically reviewing relevant literature to explore the difference in the diagnostic efficacy of ARR calculated by PRC or PRA,so as to provide guidance for clinical diagnosis.Methods:We searched PubMed,Embase,and Cochrane Library from the establishment of the database to March 2021.We included studies that report the true positive,false positive,true negative,and false negative values for the diagnosis of primary aldosteronism,and we excluded duplicate publications,research without full text,incomplete information,or inability to conduct data extraction,animal experiments,reviews,and systematic reviews.STATA 15.1 was used to analyze the data.Results:The pooled results showed that ARR(plasma aldosterone concentration[PAC]/PRC)had a sensitivity of 0.82(95%confidence interval[CI]:0.78-0.86),a specificity of 0.94(95%CI:0.92-0.95),a positive-likelihood ratio(LR)of 12.77(95%CI:7.04-23.73),a negative LR of 0.11(95%CI:0.07-0.17),and symmetric area under the curve(SAUC)of 0.982,respectively.Furthermore,the diagnostic odds ratio(DOR)of ARR(PAC/PRC)was 180.21.Additionally,the pooled results showed that ARR(PAC/PRA)had a sensitivity of 0.91(95%CI:0.86-0.95),a specificity of 0.91(95%CI:0.90-0.93),a positive LR of 7.30(95%CI:2.99-17.99),a negative LR of 0.10(95%CI:0.04-0.26),and SAUC of 0.976,respectively.The DOR of ARR(PAC/PRA)was 155.52.Additionally,we conducted a subgroup analysis for the different thresholds(<35 or≥35)of PAC/PRC.The results showed that the DOR of the cut-off≥35 groups was higher than the cut-off<35 groups(DOR=340.15,95%CI:38.32-3019.66;DOR=116.40,95%CI=23.28-581.92).Conclusions:The research results suggest that the determination of ARR(PAC/PRC)and ARR(PAC/PRA)was all effective screening tools for PA.The diagnostic accuracy and diagnostic value of ARR(PAC/PRC)are higher than ARR(PAC/PRA).In addition,within a certain range,the higher the threshold,the better the diagnostic value.展开更多
Using the plasma aldosterone concentration to plasma renin activity ratio(PAC/PRA ratio)as the screening test of choice for primary aldosteronism in hypertensive patients,we studied the clinical character-istics and t...Using the plasma aldosterone concentration to plasma renin activity ratio(PAC/PRA ratio)as the screening test of choice for primary aldosteronism in hypertensive patients,we studied the clinical character-istics and the diagnostic value of PAC/PRA ratio in primary aldosteronism.The plasma aldosterone concen-tration(PAC)and plasma renin activity(PRA)levels were measured by radioimmunoassay in 902 hypertensive patients from out-patient clinics or hospitals.One hundred and twenty-six suspected primary aldosteronism patients whose PAC/PRA ratio was>25 ng/dLg/mL/hr had a lamellar computed tomography(CT)scan in the adrenal gland and follow-up visits.The proportion of primary aldosteronism in hypertensive patients was 14%(126/902).There were 54 patients with unilateral or bilateral hyperplasia and 25 patients with adenoma according to the CT scan.39%(49/126)of the patients with primary aldosteronism had hypokalemia.Twenty-five patients received surgical treatment.The efficacy and cure rates were 100%(25/25)and 48%(12/25),respect-ively.The effective rate of aldactone and the single-drug cure rate were 89%(48/54)and 24%(13/54),respectively.Primary aldosteronism affects over 10%of hypertensive patients in China.The PAC/PRA ratio can be considered as a routine screening test in hypertensives,especially resistant hypertensive patients and a high PAC/PRA ratio is an invaluable index in primary aldosteronism diagnosis.展开更多
Patients who undergo adrenalectomy for unilateral primary aldosteronism(PA)may still develop post-surgery hyper-tension;however,the clinical characteristics and etiology of patients developing recurrent hypertension a...Patients who undergo adrenalectomy for unilateral primary aldosteronism(PA)may still develop post-surgery hyper-tension;however,the clinical characteristics and etiology of patients developing recurrent hypertension after adrenal-ectomy are unclear.We analyzed the records of 43 patients with recurrent elevated blood pressure after adrenalectomy,who were treated at our center.Standard routine clinical screening workup was used to identify the cause of recurrent hypertension.Causes of recurrent hypertension after adrenalectomy included essential hypertension,primary aldoster-onism,obstructive sleep apnea,renal artery stenosis,and Takayasu arteritis.Before adrenalectomy,39.5%of patients were diagnosed with confirmed or suspected PA,primarily through CT imaging.Adrenal venous sampling(AVS)tests were not conducted on any patients,and 72.1%patients underwent partial adrenalectomy.Among all patients,elevated blood pressure was observed in 44.2%immediately post-operation,18.6%within 1 month,16.3%in 1–6 months,and 20.9%>6 months after operation.Most patients had hypertension of grade 2 and above.Standard endocrine functional assessment and AVS tests should be performed before adrenalectomy to ensure more accurate diagnosis and favora-ble post-operative outcomes.Additionally,individuals often develop essential hypertension regardless of past adrenal disease.展开更多
The armadillo repeat containing 5(ARMC5)gene is part of a family of protein-coding genes that are rich in armadillo repeat sequences,are ubiquitously present in eukaryotes,and mediate interactions between proteins,pla...The armadillo repeat containing 5(ARMC5)gene is part of a family of protein-coding genes that are rich in armadillo repeat sequences,are ubiquitously present in eukaryotes,and mediate interactions between proteins,playing roles in various cellular processes.Current research has demonstrated that reduced expression or absence of the ARMC5 gene in various tumor tissues can lead to uncontrolled cell proliferation,thereby inducing a range of diseases.The ARMC5 gene was initially extensively studied in the context of bilateral macronodular adrenocortical disease(BMAD),with harmful pathogenic variants in ARMC5 identified in approximately 50% of BMAD patients.With advancing research,scientists have discovered that ARMC5 pathogenic variants may also have potential effects on other diseases and could be associated with increased susceptibility to certain cancers.This review aims to present the latest research progress on how the ARMC5 gene plays its role in tumors.It outlines the basic structure of ARMC5 and the regions where it functions,as well as the diseases currently proven to be associated with ARMC5.Moreover,some evidence suggests its relation to embryonic development and the regulation of immune system activity.In conclusion,the ARMC5 gene is a crucial focal point in genetic and medical research.Understanding its function and regulation is of great importance for the development of new therapeutic strategies related to diseases associated with its pathogenic variants.展开更多
摘要Primary aldosteronism(PA)is a common disorder,and the condition is underdiagnosed;the prevalence could reach one-third in patients with hypertension,and thyroid carcinoma is the second most common cancer,with papillary thyroid carcinoma(PTC)accounting for 90%of cases.Lymph node metastasis is common in PTC.However,pressure symptoms,including invasion of major local veins and the vagus nerve,are extremely rare.The association between primary hyperaldosteronism and PTC is rare.The interaction between genetic and environmental factors could explain the association.Whether the coexistence of PTC and PA influences the prognosis of PTC is to be explained.The association between PTC and PA with contralateral metastasis,vagus nerve involvement,and invasion to the internal jugular vein is extremely rare.We conducted a comprehensive literature search for relevant articles addressing the possible association of PA and PTC,and we found only 17 cases reported in the literature.The majority were women(10:6 with one study not reporting the gender),the ages ranged from 48 years to 77 years,and perioperative diagnosis was possible in 8 cases.Physicians might need to screen patients with PTC and local invasion for PA.
基金Supported by the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019XK320027).
摘要Primary aldosteronism(PA)is the most common form of secondary hypertension,with its main manifestations including hypertension and hypokalemia.Early identification of PA is extremely important as PA patients can easily develop cardiovascular complications such as atrial fibrillation,stroke,and myocardial infarction.The past decade has witnessed the rapid advances in the genetics of PA,which has shed new light on PA treatment.While surgery is the first choice for unilateral diseases,bilateral lesions can be treated with mineralocorticoid receptor antagonists(MRAs).The next-generation non-steroidal MRAs are under investigations.New medications including calcium channel blockers,macrophage antibiotics,and aldosterone synthase inhibitors have provided a new perspective for the medical treatment of PA.
摘要BACKGROUND Adrenal incidentaloma(AI)has been frequently encountered in the clinical setting.It has been shown that primary aldosteronism(PA)or subclinical Cushing’s syndrome(SCS)are the representative causative diseases of AI.However,the coexistence of PA and SCS has been reportedly observed.Recently,we encountered a case of AI,in which PA and SCS coexisted,confirmed by histopathological examinations after a laparoscopic adrenalectomy.We believe that there were some clinical implications in the diagnosis of the present case.CASE SUMMARY A 58-year-old man presented with lower right abdominal pain with a blood pressure of 170/100 mmHg.A subsequent computed tomography scan revealed right ureterolithiasis,which was the cause of right abdominal pain,and right AI measuring 22 mm×25 mm.After the disappearance of right abdominal pain,subsequent endocrinological examinations were performed.Aldosterone-related evaluations,including adrenal venous sampling,revealed the presence of bilateral PA.In addition,several cortisol-related evaluations showed the presence of SCS on the right adrenal adenoma.A laparoscopic right adrenalectomy was then performed.The histopathological examination of the resected right adrenal revealed the presence of a cortisol-producing adenoma,while CYP11B2 immunoreactivity was absent in this adenoma.However,in the adjacent nonneoplastic adrenal,multiple CYP11B2-positive adrenocortical micronodules were detected,showing the presence of aldosterone-producing adrenocortical micronodules.CONCLUSION Careful clinical and pathological examination should be performed when a patient harboring AI presents with concomitant SCS and PA.
摘要Background: At present, in clinical practice, patients with primary hyperaldosteronism (PA) are mainly treated by surgery or medical drugs (spironolactone/spironolactone, epridone, etc.). Some studies show that the left ventricular hypertrophy of patients can be significantly improved after treatment. However, at present, the relevant research is very limited, and there is still controversy on the improvement of cardiac structure and function between the two treatment methods. No reliable conclusions have been drawn. Objective: We conducted this meta-analysis to compare the improvement of cardiac structure of patients after surgical treatment and drug treatment, so as to clarify the efficacy of surgical treatment and drug treatment for PA patients. Methods: In order to examine the cardiac color ultrasound data of PA patients receiving surgical treatment and drug therapy (spironolactone, antisterone), randomized or observational studies were searched through Pubmed, Cochrane Library, and Embase. Meta-analysis was then carried out on the comprehensive and individual outcomes. The ROINBS-I scale is utilized to assess the offset risk of study inclusion. Outcomes: A total of nine studies involving 799 patients with PA into meta analysis, according to the results of the surgery in the treatment of patients with PA, left ventricular mass index (LVMI) changes in value (drop range) is significantly higher than drug therapy (Mean difference IV: —2.32, P In 6 studies, after surgical treatment of interventricular septal thickness (IVSD), changes in value (drop range) are also higher than drug therapy (Mean difference IV: —0.35, P In 2 studies, the surgical treatment of plasma aldosterone concentration (PAC) drop degree is superior to drug therapy (Mean difference IV: —12.63, P < 0.05), and blood pressure to improve the degree of surgery and drug treatment has no obvious difference. Conclusions: This meta-analysis result confirmed that after medical and surgical treatment of PA can obviously improve the patient’s blood pressure, and no difference between the two treatments. But for the heart structure improvement, including left ventricular hypertrophy and interventricular septum thickness, surgical treatment effect is significantly better than the medicine treatment, so the adrenalectomy can be used as unilateral PA optimal choice of treatment.
摘要To the Editor:Primary aldosteronism(PA)is a common cause of secondary hypertension,accounting for 5%to 20%of hypertensive patients.[1]The two main subtypes are aldosterone-producing adenoma(APA)and idiopathic hyperaldosteronism(IHA).Differentiating these subtypes is crucial for selecting appropriate treatment.[2]However,the current gold standard for subtype diagnosis,adrenal venous sampling(AVS),is invasive,costly,and not universally available.[3]This study aimed to develop a noninvasive prediction score using clinical and imaging parameters to distinguish APA from IHA.
基金supported by a grant from the Science and Technology Project of Guangdong Province(No.2016A020215136)。
摘要Background:Since the diagnostic value of aldosterone to renin ratio(ARR)calculated by plasma renin concentration(PRC)or plasma renin activity(PRA)is still inconclusive,we conducted a meta-analysis by systematically reviewing relevant literature to explore the difference in the diagnostic efficacy of ARR calculated by PRC or PRA,so as to provide guidance for clinical diagnosis.Methods:We searched PubMed,Embase,and Cochrane Library from the establishment of the database to March 2021.We included studies that report the true positive,false positive,true negative,and false negative values for the diagnosis of primary aldosteronism,and we excluded duplicate publications,research without full text,incomplete information,or inability to conduct data extraction,animal experiments,reviews,and systematic reviews.STATA 15.1 was used to analyze the data.Results:The pooled results showed that ARR(plasma aldosterone concentration[PAC]/PRC)had a sensitivity of 0.82(95%confidence interval[CI]:0.78-0.86),a specificity of 0.94(95%CI:0.92-0.95),a positive-likelihood ratio(LR)of 12.77(95%CI:7.04-23.73),a negative LR of 0.11(95%CI:0.07-0.17),and symmetric area under the curve(SAUC)of 0.982,respectively.Furthermore,the diagnostic odds ratio(DOR)of ARR(PAC/PRC)was 180.21.Additionally,the pooled results showed that ARR(PAC/PRA)had a sensitivity of 0.91(95%CI:0.86-0.95),a specificity of 0.91(95%CI:0.90-0.93),a positive LR of 7.30(95%CI:2.99-17.99),a negative LR of 0.10(95%CI:0.04-0.26),and SAUC of 0.976,respectively.The DOR of ARR(PAC/PRA)was 155.52.Additionally,we conducted a subgroup analysis for the different thresholds(<35 or≥35)of PAC/PRC.The results showed that the DOR of the cut-off≥35 groups was higher than the cut-off<35 groups(DOR=340.15,95%CI:38.32-3019.66;DOR=116.40,95%CI=23.28-581.92).Conclusions:The research results suggest that the determination of ARR(PAC/PRC)and ARR(PAC/PRA)was all effective screening tools for PA.The diagnostic accuracy and diagnostic value of ARR(PAC/PRC)are higher than ARR(PAC/PRA).In addition,within a certain range,the higher the threshold,the better the diagnostic value.
摘要Using the plasma aldosterone concentration to plasma renin activity ratio(PAC/PRA ratio)as the screening test of choice for primary aldosteronism in hypertensive patients,we studied the clinical character-istics and the diagnostic value of PAC/PRA ratio in primary aldosteronism.The plasma aldosterone concen-tration(PAC)and plasma renin activity(PRA)levels were measured by radioimmunoassay in 902 hypertensive patients from out-patient clinics or hospitals.One hundred and twenty-six suspected primary aldosteronism patients whose PAC/PRA ratio was>25 ng/dLg/mL/hr had a lamellar computed tomography(CT)scan in the adrenal gland and follow-up visits.The proportion of primary aldosteronism in hypertensive patients was 14%(126/902).There were 54 patients with unilateral or bilateral hyperplasia and 25 patients with adenoma according to the CT scan.39%(49/126)of the patients with primary aldosteronism had hypokalemia.Twenty-five patients received surgical treatment.The efficacy and cure rates were 100%(25/25)and 48%(12/25),respect-ively.The effective rate of aldactone and the single-drug cure rate were 89%(48/54)and 24%(13/54),respectively.Primary aldosteronism affects over 10%of hypertensive patients in China.The PAC/PRA ratio can be considered as a routine screening test in hypertensives,especially resistant hypertensive patients and a high PAC/PRA ratio is an invaluable index in primary aldosteronism diagnosis.
基金funding agency in the public,commercial,or notforprofit sectors.
摘要Patients who undergo adrenalectomy for unilateral primary aldosteronism(PA)may still develop post-surgery hyper-tension;however,the clinical characteristics and etiology of patients developing recurrent hypertension after adrenal-ectomy are unclear.We analyzed the records of 43 patients with recurrent elevated blood pressure after adrenalectomy,who were treated at our center.Standard routine clinical screening workup was used to identify the cause of recurrent hypertension.Causes of recurrent hypertension after adrenalectomy included essential hypertension,primary aldoster-onism,obstructive sleep apnea,renal artery stenosis,and Takayasu arteritis.Before adrenalectomy,39.5%of patients were diagnosed with confirmed or suspected PA,primarily through CT imaging.Adrenal venous sampling(AVS)tests were not conducted on any patients,and 72.1%patients underwent partial adrenalectomy.Among all patients,elevated blood pressure was observed in 44.2%immediately post-operation,18.6%within 1 month,16.3%in 1–6 months,and 20.9%>6 months after operation.Most patients had hypertension of grade 2 and above.Standard endocrine functional assessment and AVS tests should be performed before adrenalectomy to ensure more accurate diagnosis and favora-ble post-operative outcomes.Additionally,individuals often develop essential hypertension regardless of past adrenal disease.
基金supported by grants from the National High-Level Hospital Clinical Research Funding(No.2022-PUMCH-B-039).
摘要The armadillo repeat containing 5(ARMC5)gene is part of a family of protein-coding genes that are rich in armadillo repeat sequences,are ubiquitously present in eukaryotes,and mediate interactions between proteins,playing roles in various cellular processes.Current research has demonstrated that reduced expression or absence of the ARMC5 gene in various tumor tissues can lead to uncontrolled cell proliferation,thereby inducing a range of diseases.The ARMC5 gene was initially extensively studied in the context of bilateral macronodular adrenocortical disease(BMAD),with harmful pathogenic variants in ARMC5 identified in approximately 50% of BMAD patients.With advancing research,scientists have discovered that ARMC5 pathogenic variants may also have potential effects on other diseases and could be associated with increased susceptibility to certain cancers.This review aims to present the latest research progress on how the ARMC5 gene plays its role in tumors.It outlines the basic structure of ARMC5 and the regions where it functions,as well as the diseases currently proven to be associated with ARMC5.Moreover,some evidence suggests its relation to embryonic development and the regulation of immune system activity.In conclusion,the ARMC5 gene is a crucial focal point in genetic and medical research.Understanding its function and regulation is of great importance for the development of new therapeutic strategies related to diseases associated with its pathogenic variants.