1.Effect of Modified Shibaotang on Serum Sex Hormone Levels in Patients with Male Late-onset Hypogonadism of Kidney Essence Deficiency Syndrome Complicated with Diabetes Mellitus
Yi SHAN ; Shaokang CHEN ; Zhenfu SHI ; Haifeng XU ; Yi LU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):227-233
ObjectiveTo observe the effect of modified Shibaotang on serum sex hormone levels in patients with male late-onset hypogonadism of kidney essence deficiency syndrome complicated with diabetes mellitus. MethodsA total of 60 patients with male late-onset hypogonadism of kidney essence deficiency syndrome complicated with diabetes mellitus,who met the inclusion criteria and were admitted to Yinchuan Hospital of Traditional Chinese Medicine from October 2022 to October 2023,were selected and randomly divided into an observation group and a control group,with 30 patients in each group. Both groups continued their original treatments,including blood glucose lowering and blood lipid regulation. The observation group was treated with modified Shibaotang,while the control group was treated with testosterone undecanoate capsules. The treatment lasted for 12 weeks. The changes in traditional Chinese medicine (TCM)syndrome scores,partial androgen deficiency in aging males (PADAM)symptom scores,glucose metabolism indexes [fasting plasma glucose (FPG),2-hour postprandial glucose (2 h PG),glycosylated hemoglobin (HbA1c)],and serum sex hormone indexes [sex hormone-binding globulin (SHBG),free testosterone (FT),total testosterone (TT),prolactin (PRL),luteinizing hormone (LH),follicle stimulating hormone (FSH),estrogen (E2)] were compared between the two groups before and after treatment. Safety was also evaluated. Results(1)Clinical efficacy comparison:After treatment,the clinical efficacy in both groups was similar,and there was no statistically significant difference between the two groups. (2)TCM syndrome score and PADAM symptom score comparison:After treatment,both groups showed a significant reduction in TCM syndrome scores and PADAM symptom scores (P<0.01),and the observation group showed a significantly greater reduction compared to the control group (P<0.05). (3)Glucose metabolism indexes comparison:After treatment,the levels of FPG,2 h PG,and HbA1c were significantly reduced in both groups (P<0.01),and there was no statistically significant difference between the two groups regarding FPG,2 h PG,and HbA1c levels after treatment. (4)Serum sex hormone indexes comparison:After treatment,the levels of FT,TT,PRL,LH,and FSH were significantly increased in both groups (P<0.01),while E2 levels were significantly decreased (P<0.01). There was no statistically significant difference between the two groups in the levels of FT,TT,PRL,LH,FSH,and E2 after treatment. There was also no significant difference in SHBG levels within or between the groups before and after treatment. During the clinical observation,neither group exhibited any obvious adverse reactions. ConclusionModified Shibaotang can significantly improve the clinical symptoms of male late-onset hypogonadism of kidney essence deficiency syndrome complicated with diabetes mellitus,reduce blood glucose,and increase sex hormone levels. The mechanism may involve the inhibition of aromatase transformation in adipocytes,promotion of GnRH production,and regulation of the hypothalamic-pituitary-gonadal axis function.
2.Effect of Maxing Loushi Decoction on Inflammatory Factors, Immune Function, and PD-1/PD-L1 Signaling Pathway in Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease with Phlegm Turbidity Obstructing Lung Syndrome
Yuexin SHI ; Zhi YAO ; Jun YAN ; Caijun WU ; Li LI ; Yuanzhen JIAN ; Guangming ZHENG ; Yanchen CAO ; Haifeng GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):143-150
ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) with phlegm turbidity obstructing lung syndrome, and to investigate its effects on inflammatory factors, immune function, and the programmed death-1(PD-1)/programmed death-ligand 1 (PD-L1) signaling pathway. MethodsA randomized controlled study was conducted, enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital, Beijing University of Chinese Medicine, from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table, with 45 patients in each group. The control group received conventional Western medical treatment, while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy, COPD Assessment Test (CAT) score, modified Medical Research Council Dyspnea Scale (mMRC), 6-minute walk test (6MWT), serum inflammatory factors, T lymphocyte subsets, and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% (33/42) in the control group and 95.35% (41/43) in the observation group, with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant (χ2 = 5.136, P<0.05). After treatment, both groups showed significant reductions in CAT and mMRC scores (P<0.05, P<0.01) and significant increases in 6MWT compared to baseline (P<0.01). The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1(MCP-1), and macrophage inflammatory protein-1α (MIP-1α) were significantly reduced in both groups (P<0.05, P<0.01), with greater reductions in the observation group (P<0.05, P<0.01). CD8+ levels were significantly reduced (P<0.01), while CD3+, CD4+, and CD4+/CD8+ levels were significantly increased in both groups after treatment (P<0.05, P<0.01), with more significant improvements observed in the observation group (P<0.05, P<0.01). Serum PD-1 levels were reduced (P<0.05, P<0.01), and PD-L1 levels were increased significantly in both groups after treatment (P<0.05, P<0.01), with more pronounced changes in the observation group (P<0.05). ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors, improving immune function, and regulating the PD-1/PD-L1 signaling pathway.
3.Effect of Maxing Loushi Decoction on Inflammatory Factors, Immune Function, and PD-1/PD-L1 Signaling Pathway in Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease with Phlegm Turbidity Obstructing Lung Syndrome
Yuexin SHI ; Zhi YAO ; Jun YAN ; Caijun WU ; Li LI ; Yuanzhen JIAN ; Guangming ZHENG ; Yanchen CAO ; Haifeng GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):143-150
ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) with phlegm turbidity obstructing lung syndrome, and to investigate its effects on inflammatory factors, immune function, and the programmed death-1(PD-1)/programmed death-ligand 1 (PD-L1) signaling pathway. MethodsA randomized controlled study was conducted, enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital, Beijing University of Chinese Medicine, from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table, with 45 patients in each group. The control group received conventional Western medical treatment, while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy, COPD Assessment Test (CAT) score, modified Medical Research Council Dyspnea Scale (mMRC), 6-minute walk test (6MWT), serum inflammatory factors, T lymphocyte subsets, and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% (33/42) in the control group and 95.35% (41/43) in the observation group, with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant (χ2 = 5.136, P<0.05). After treatment, both groups showed significant reductions in CAT and mMRC scores (P<0.05, P<0.01) and significant increases in 6MWT compared to baseline (P<0.01). The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1(MCP-1), and macrophage inflammatory protein-1α (MIP-1α) were significantly reduced in both groups (P<0.05, P<0.01), with greater reductions in the observation group (P<0.05, P<0.01). CD8+ levels were significantly reduced (P<0.01), while CD3+, CD4+, and CD4+/CD8+ levels were significantly increased in both groups after treatment (P<0.05, P<0.01), with more significant improvements observed in the observation group (P<0.05, P<0.01). Serum PD-1 levels were reduced (P<0.05, P<0.01), and PD-L1 levels were increased significantly in both groups after treatment (P<0.05, P<0.01), with more pronounced changes in the observation group (P<0.05). ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors, improving immune function, and regulating the PD-1/PD-L1 signaling pathway.
4.Application of"rotation-correction loop technique"in the retrieval of complex inferior vena cava filters
Jie HU ; Maolin QIAO ; Qinqin TIAN ; Heng WANG ; Sheng YAN ; Wenbo ZHAO ; Yongbin SHI ; Peilu SHI ; Miao XING ; Haifeng LI ; Haijiang JIN ; Ping WANG ; Wenkai CHANG ; Yuwen WANG ; Honglin DONG
Journal of Interventional Radiology 2024;33(3):289-294
Objective To discuss the application of the"rotating guidewire and correcting the filter recovery hook direction technique"("rotation-correction loop technique"for short),a technique invented by the authors in clinical practice,in the retrieval of complex inferior vena cava filter(IVCF),and to discuss its technical skills and advantages.Methods The clinical data of 417 patients carrying an IVCF,who were admitted to the Department of Vascular Surgery of Second Hospital of Shanxi Medical University of China to retrieve IVCF between January 2022 and December 2022,were retrospectively analyzed.Taking the time spent on the retrieval of IVCF and the intraoperative radiation dose as the evaluation indicators,the advantages and disadvantages of the standard filter retrieval technique,the"rotation-correction loop technique"and the other loop-assisted techniques were compared.Results Both the intraoperative radiation dose and the time spent on the retrieval of IVCF using"rotation-correction loop technique"were remarkably lower than those of other loop-assisted techniques(P<0.000 1).Conclusion For the retrieval of complex IVCF,especially for the IVCF which is heavily tilted and/or its recovered hook is attached to the vascular wall,the use of"rotation-correction loop technique"can shorten the time spent on the the retrieval of IVCF and reduce the intraoperative radiation dose.This technique carries high safety and practicability,the device is simple and it can be manipulated by single physician,which is conducive to clinical application and promotion.(J Intervent Radiol,2024,33:289-294)
5.A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
Hua ZHENG ; Yunfei ZHI ; Lujing YING ; Lan ZHU ; Mingliang JI ; Ze LIANG ; Jiangshan WANG ; Haifeng SHI ; Weihong ZHANG ; Mengsu XIAO ; Yushi ZHANG ; Kaifeng XU ; Zhaohui LU ; Yaping LIU ; Ruiyi XU ; Huijuan ZHU ; Li WEN ; Yan ZHANG ; Gang CHEN ; Limeng CHEN
JOURNAL OF RARE DISEASES 2024;3(1):79-86
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
6.Prognosis of different hemodynamic classifications in patients with pulmonary hypertension due to left heart disease
Yuan TANG ; Yanping SHI ; Lu CHEN ; Yifang SUO ; Shengen LIAO ; Cheang LOKFAI ; Yanli ZHOU ; Rongrong GAO ; Jing SHI ; Wei SUN ; Hao ZHANG ; Yanhui SHENG ; Rong YANG ; Xiangqing KONG ; Xinli LI ; Haifeng ZHANG
Chinese Journal of Cardiology 2024;52(10):1177-1185
Objective:To compare the prognostic values of different classification by using transpulmonary pressure gradient (TPG), diastolic pressure gradient (DPG) and pulmonary vascular resistance (PVR) in patients with pulmonary hypertension due to left heart disease (PH-LHD), and investigated hemodynamic and clinical factors associated with mortality in patients with PH-LHD.Methods:This was a single-center prospective cohort study. In-hospital patients diagnosed with PH-LHD via right heart catheterization at the Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, from September 2013 to December 2019 were enrolled. Patients were divided according to TPG (cutoff value 12 mmHg; 1 mmHg=0.133 kPa), DPG (cutoff value 7 mmHg), PVR (cutoff value 3 Wood Units), and the combination of TPG and PVR. Baseline characteristic was recorded. All patients were followed up until the occurrence of endpoint event, defined as all-cause death that occurred during the follow-up period, or until April 18, 2022. Receiver operating characteristic curves were used to compare the predictive value of 3 classification methods for all-cause death in PH-LHD patients. The optimal cutoff values were calculated using Jorden index. Survival analysis was performed using Kaplan-Meier analysis, and log-rank test was used to compare the predictive efficacy of classification methods based on optimal cutoff values or guidance-recommended thresholds for the survival of PH-LHD patients. Variables showing statistical significance in the univariate analysis were incorporated into multivariate Cox regression model to analyze the independent risk factors for all-cause mortality.Results:A total of 243 patients were enrolled, aged (54.9±12.7) years old, including 169 (69.5%) males. During a median follow-up of 57 months, there were 101 (41.6%) deaths occurred. Grouping results were as follows: (1) TPG: TPG≤12 mmHg group 115 patients, TPG>12 mmHg group 128 patients; (2) DPG: DPG<7 mmHg group 193 patients, DPG≥7 mmHg group 50 patients; (3) PVR: PVR≤3 Wood Units group 108 patients, PVR>3 Wood Units group 135 patients; (4) TPG and PVR: TPG≤12 mmHg and PVR≤3 Wood Units group 89 patients, TPG>12 mmHg and PVR>3 Wood Units group 109 patients. PVR ( AUC=0. 698,95% CI:0.631-0.766) had better predictive value for all-cause mortality than TPG ( AUC=0.596, 95% CI: 0.523-0.669) and DPG ( AUC=0.526, 95% CI: 0.452-0.601) (all P<0.05). The optimal cutoff values for TPG, DPG, and PVR were13.9 mmHg, 2.8 mmHg, and 3.8 Wood Units, respectively. Kaplan-Meier analysis based on the optimal cutoff values or guidance-recommended thresholds showed that PVR and TPG were the predictors of survival ( P<0.05), while DPG did not showed significance ( P>0.05). Multivariate Cox regression analysis showed that age, PVR and log 2N-terminal pro-B-type natriuretic peptide were independent risk factors for all-cause mortality in PH-LHD patients (all P<0.05). Conclusion:Classification according to PVR was most valuable in predicting all-cause death in PH-LHD patients, while TPG showed moderate predictive ability and DPG had no predictive value.
7.Research progress in biological role of TIGIT and its application in bladder cancer
Yawei ZHANG ; Hon-Gjin SHI ; Shi FU ; Jiansong WANG ; Haifeng WANG
The Journal of Practical Medicine 2024;40(12):1762-1766
T-cell immunoglobulin and immunoreceptor tyrosine-based inhibitory motif domain(TIGIT)is a transmembrane glycoprotein expressed on the surface of immune cells.TIGIT expression is up-regulated in blad-der cancer and will have an important impact on bladder cancer development and poor prognosis.Immunotherapy that blocks TIGIT signaling is expected to improve the prognosis of bladder cancer.With further research,TIGIT is likely to become a target for bladder cancer diagnosis and treatment.This article reviews the structure,immuno-modulatory effect and the research progress of TIGIT in bladder cancer.
8.Cerebral magnetic resonance diffusion kurtosis imaging in active Crohn's disease patients with or without anxiety
Kecen YUE ; Jingwen SUN ; Xintong WU ; Haifeng SHI
Chinese Journal of Behavioral Medicine and Brain Science 2024;33(5):432-438
Objective:To investigate the changes of brain microstructure in active Crohn's disease (CD) patients with or without anxiety by diffusion kurtosis imaging (DKI), and to explore the relationship between brain microstructure and anxiety in patients with CD.Methods:Thirty-seven patients with CD who were treated in Changzhou Second People's Hospital Affiliated to Nanjing Medical University from January 2022 to January 2023 were included as the CD group, and 20 healthy subjects were included as the healthy control group during the same period. All subjects were assessed with hospital anxiety and depression scale-anxiety (HADS-A) before magnetic resonance imaging(MRI) scan. According to the HADS-A score, CD patients were divided into the CD group with anxiety (16 cases) and the CD group without anxiety (21 cases). After MRI scan, DKI parameters were obtained by DKE software. One-way analysis of variance was used to compare DKI parameters between the two groups of CD patients and the healthy control group. Pearson correlation was used to analyze the correlation between DKI parameters in different brain areas and psychological scale scores in the two groups of CD patients.Results:The axial diffusion kurtosis(AK)values in the right insula, the left superior temporal gyrus, the right thalamus, the left middle temporal gyrus, the right inferior temporal gyrus, the left lingual gyrus and the right anterior cuneus were significantly different among the three groups ( F=3.060-9.627, all P<0.05).There were significant differences in the radial diffusion kurtosis(RK) values in the right cerebellar region 6 and the left hippocampus among the three groups ( F=4.124, 3.536, 4.200, all P<0.05). Further multiple comparison results showed that the AK values of the right insula (0.701±0.028)( P=0.019), the left superior temporal gyrus (0.764±0.016)( P=0.002) and the right thalamus (0.728±0.016)( P=0.001) in the CD group without anxiety were lower than those of the healthy control group(0.726±0.010, 0.780±0.015, 0.771±0.082), and the RK value of the right cerebellar region 6 ( P=0.021) was lower than that of the healthy control group. The AK values of the right insula ( P=0.023), the left superior temporal gyrus ( P=0.015), the right thalamus ( P=0.031), the left middle temporal gyrus ( P=0.006), the right inferior temporal gyrus ( P=0.001) and the left lingual gyrus ( P=0.007) in the CD group with anxiety were lower than those in the healthy control group. The RK values of right cerebellar region 6 ( P=0.012) and left hippocampus ( P=0.004) were lower than those of healthy control group. The AK values of the right insula ( P=0.002) and the right anterior cuneus ( P=0.017) in the group with anxiety were lower than those in the CD group without anxiety. In the CD group with anxiety, the AK value of the right insula was correlated with erythrocyte sedimentation rate(ESR)( r=-0.47, P=0.048), HADS-A score ( r=-0.68, P=0.002), SES-CD( r=-0.84, P<0.001) and duration of disease ( r=-0.61, P=0.008) were negatively correlated. AK values in the left superior temporal gyrus with anxiety CD group were negatively correlated with HADS-A score ( r=-0.51, P=0.030) and SES-CD score ( r=-0.48, P=0.046). Conclusion:The microstructure of some brain regions was damaged in CD patients with or without anxiety, which was manifested as decreased RK and AK values in DKI parameter values, which may be related to the anxiety state in active CD patients.
9.Clinical diagnostic value of altered functional connectivity in the central executive network on mild cognitive impairment in patients with end-stage renal disease
Wenqing LI ; Di WANG ; Tongqiang LIU ; Wanchao ZHANG ; Haifeng SHI
Chinese Journal of Behavioral Medicine and Brain Science 2024;33(11):993-1000
Objective:To evaluate the clinical diagnostic significance of altered functional connectivity (FC) within the central executive network (CEN) in patients with mild cognitive impairment (MCI) related to end-stage renal disease (ESRD).Methods:A total of 155 patients with ESRD receiving hemodialysis treatment at the department of nephrology, Changzhou Second People's Hospital, from June 2020 to December 2023, were recruited. According to wether the patient had MCI symptoms, 85 patients were classified in the ESRD with MCI group, while 70 patients were in the ESRD without MCI group. Additionally, 76 healthy volunteers matched for age, sex, and years of education were enrolled in the study. All participants underwent resting-state functional magnetic resonance imaging and were evaluated using the Montreal cognitive assessment. With the dorsolateral prefrontal cortex serving the core of CEN, functional attributes of the CEN were calculated using seed-based FC analysis. Based on these imaging features and clinical data, a LASSO + Logistic regression model was constructed to predict MCI in patients with ESRD, and SPSS 20.0 software was used for analysis.Results:There were significant differences in FC in 10 brain regions, including the inferior temporal gyrus, temporal pole, corpus callosum, ventromedial prefrontal cortex, ventral posterior cingulate cortex, inferior parietal lobule, precuneus, dorsomedial prefrontal cortex, dorsal anterior cingulate cortex, and supplementary motor area, among the three groups (all P<0.001). Post hoc analysis revealed that the zFC values of the ventromedial prefrontal cortex and dorsomedial prefrontal cortex in ESRD with MCI group(0.385±0.219, 0.215±0.247) were significantly higher than those in the ESRD without MCI group (0.278±0.184, 0.121±0.221) and the healthy controls (0.206±0.217, 0.078±0.212) (all P<0.05). In addition to the ventromedial prefrontal cortex and dorsomedial prefrontal cortex, zFC values in all brain regions exhibiting significant differences were markedly reduced in both the ESRD with MCI group (temporal pole (0.157±0.221 vs 0.327±0.191), corpus callosum (0.100±0.184 vs 0.327±0.191), ventral posterior cingulate cortex (0.027±0.199 vs 0.128±0.154), inferior parietal lobule (0.218±0.195 vs 0.387±0.213), precuneus (0.193±0.184 vs 0.358±0.142), supplementary motor area (0.182±0.163 vs 0.231±0.163)) and the ESRD without MCI group (inferior temporal gyrus (0.055±0.125 vs 0.250±0.146), temporal pole (0.048±0.223 vs 0.335±0.195), corpus callosum (0.192±0.161 vs 0.327±0.191), inferior parietal lobule (0.234±0.197 vs 0.387±0.213), dorsal anterior cingulate cortex (0.383±0.242 vs 0.585±0.195), supplementary motor area (0.076±0.162 vs 0.231±0.163)), compared to healthy controls ( P<0.01). The zFC values of 4 brain regions in ESRD with MCI group were significantly higher than those in the ESRD without MCI group (inferior temporal gyrus (0.226±0.205 vs 0.055±0.125), temporal pole (0.157±0.221 vs 0.048±0.223), dorsal anterior cingulate cortex (0.498±0.254 vs 0.383±0.242), supplementary motor area (0.182±0.163 vs 0.076±0.162)) ( P<0.05). The diagnostic model developed from these results demonstrated excellent discrimination(the area under the curve=0.94, the sensitivity=0.89, the specificity=0.86, and the accuracy=0.88). Additionally, it exhibited strong calibration ( R2=0.908) and clinical applicability(patients benefited when the predicted probability exceeded 0.12). Conclusion:The enhancement of FC in CEN and its attenuation with other networks provide relevant evidence for the neuropathological mechanisms underlying MCI in patients with ESRD.The diagnostic model based on FC changes in the CEN, as presented in this study, is valuable for detecting early cognitive impairment in patients with ESRD.
10.Clinical analysis of seven cases of primary hyperoxaluria type 1
Zuolin LI ; Bin WANG ; Fengmei WANG ; Haifeng NI ; Yuqiu LIU ; Wen SHI ; Junlan YANG ; Xiaotong XIE ; Bicheng LIU ; Xiaoliang ZHANG
Chinese Journal of Internal Medicine 2024;63(8):781-786
We retrospectively analyzed the clinical data of seven patients (four men and three women) with primary hyperoxaluria (PH) type 1 (PH1) in the Department of Nephrology of Zhongda Hospital, Southeast University from January 2018 to October 2023. The mean age at disease onset was 32.1 (range: 26-42) years. The mean age at diagnosis was 40.6 (range: 28-51) years. All patients initially had kidney stones, and three patients were found to have renal insufficiency at the time of disease onset. Among them, two patients underwent hemodialysis immediately. Symptoms at the first visit included bone pain ( n=7), joint pain or deformity ( n=5), fatigue ( n=5), hypotension ( n=3), and subcutaneous nodules ( n=2). Four patients had a family history of PH. All patients had varying degrees of anemia (60-114 g/L), significant hypoalbuminemia (16.5-32.1 g/L), and hypercoagulable state (D-dimer: 2 230-12 781 μg/L). Seven patients received maintenance hemodialysis; their mean age was 37.7 (range: 26-50) years. The mean duration from disease onset to hemodialysis was 5.6 (range: 0-20) years. Five patients repeatedly experienced dialysis access dysfunction. Three patients underwent kidney transplantation before a diagnosis was made, and all transplanted kidneys lost function due to oxalate deposition. The mean follow-up duration was 14.43 (range: 4-38) months. Unfortunately, one patient died. All seven patients underwent computed tomography of the abdomen. All patients suffered skeletal abnormalities, bilateral nephrolithiasis, and nephrocalcinosis. Six patients carried AGXT gene mutations, including four compound heterozygous mutations and two pure homozygous mutations.The mutation sites included: c.823-824dup.AG (p.S275Rfs*38)(exon 8), c.815-816ins.GA (p.S275Rfs*38)(exon 8), c.595G>A (p.G199S) (exon 5), c.32C>G (p.P11R) (exon 1), and c.638C>T (p.A213V)(exon 6). According to the American College of Medical Genetics and Genomics guidelines, two loci were identified as likely pathogenic variants, seven were identified as pathogenic variants, and one locus was identified as having uncertain significance. In addition, patients 1 and 4 underwent skin biopsy, patient 2 underwent renal transplant biopsy, and patient 3 underwent bone marrow biopsy. Interestingly, significant oxalate deposition was found in the tissues. Therefore, PH1 is a rare autosomal recessive inherited disease. This study not only enhanced the understanding of the clinical characteristics of PH1 patients but also had great significance in early diagnosis and treatment of the disease.

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