Objective:This study aimed to explore the status of radiological Kashin-Beck disease (KBD) among school-aged children in Chamdo City, Tibet, through a 3-year monitoring survey, providing epidemiological evidence for prevention and control strategies.Methods:The target areas for this study were Luolong, Bianba, and Basu counties in Chamdo City, Tibet Autonomous Region, identified as having the most severe historical cases of KBD. Children aged 7-12 years attending school were enrolled as study subjects. Anteroposterior X-ray films of the right-hand were taken, and radiological diagnoses were made based on the "Diagnosis of Kashin-Beck Disease" criteria (WS/T 207-2010). Two experienced researchers independently reviewed the X-rays, and intra- and inter-group consistency were assessed using weighted Kappa values and percentage agreement. Cross-sectional surveys were conducted in 2017 and 2020 to describe the X-ray detection rates of KBD, and logistic regression analysis was employed to construct a predictive model of risk factors for radiological KBD cases.Results:In 2017, a total of 5,711 children aged 7-12 years in Chamdo City, Tibet, participated in the baseline cross-sectional survey (average age 9.2 years, 48.0% female), with 28 cases of radiological KBD. The age- and gender-standardized prevalence rate was 0.527%. In 2020, 6,771 participants (average age 9.3 years, 49.5% female) underwent a second cross-sectional survey, with 9 cases of radiological KBD and a standardized prevalence rate of 0.134%. Logistic regression analysis indicated that older age [ OR=2.439, 95% CI(1.299, 4.580), P=0.006] and female gender [ OR=8.157, 95% CI(1.016, 65.528), P=0.048] were independent risk factors for radiological KBD cases. Conversely, higher residential altitude, under the premise of Tibet's high altitude, was a protective factor [ OR=0.995, 95% CI(0.990, 0.999), P=0.032). Conclusion:The radiographically positive detection rate of KBD among school-aged children in Chamdo City, Tibet Autonomous Region, is at an extremely low level and showing a declining trend, reaching the historical standard in 2020. Considering the absence of positive signs in affected children, it suggests that local KBD has been effectively eliminated.

Objective:To investigate the clinical effect of 3D printing combined with O-arm navigation assisted posterior hemivertebrae resection and orthopedic fixation in the treatment of congenital cervicothoracic scoliosis.Methods:A retrospective study was conducted on the clinical data of 14 patients with congenital cervicothoracic kyphosis caused by hemivertebra treated in Henan Provincial People's Hospital from January 2015 to June 2021, including 9 males and 5 females, aged 8.9±3.2 years (range, 1-15 years). Operation time, intraoperative blood loss and fusion stage were recorded. Intraoperative O-arm scanning and postoperative CT scanning were performed to evaluate the accuracy of nail placement. The cervicothoracic scoliosis Cobb angle, compensatory scoliosis Cobb angle, local kyphosis Cobb angle, torticollis angle, T 1 tilt angle and clavicular angle were measured before operation, model design, 1 week after operation and at the last follow-up to evaluate the effect of surgical design, intraoperative orthosis and the correction loss at follow-up. The Society for Scoliosis Research-22 (SRS-22) questionnaire was used to evaluate the functional and treatment effect. At the last follow-up, the osteotomy fusion was evaluated by Eck criterion. Results:All patients successfully completed the operation, the operation time was 228.5±41.8 min, the intraoperative blood loss was 355.6±46.7 ml, and the number of fusion segments was 5.5±0.8. Follow-up duration was 35.5±13.2 months. A total of 140 pedicle screws were inserted, with an accuracy of 97.1% (136/140). The Cobb angle of cervicothoracic scoliosis was 53.9°±17.9° preoperatively, 11.3°±4.4° in the model design, 10.8°±2.6° one week postoperatively, and 14.5°±3.5° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 78.6%±6.7%. The Cobb angle of compensatory scoliosis was 33.1°±12.1° before surgery, 11.9°±2.4° for model design, 10.5°±3.4° for one week after surgery, and 14.1°±2.5° for the last follow-up, with statistically significant differences ( P<0.001). The postoperative correction rate was 65.2%±16.2%. The Cobb angle of local kyphosis was 27.8°±9.8° preoperatively, 10.1°±2.1° in the model design, 9.8°±1.9° one week postoperatively, and 12.7°±1.6° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 59.2%±18.9%. The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 78.6%±6.7%. The neck tilt angle was 20.6°±6.7° preoperatively, 6.2°±1.9° in the model design, 5.9°±2.1° one week postoperatively, and 7.1°±1.4° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 70.0%±11.1%. The T 1 inclination angle was 20.2°±5.8° preoperatively, 11.5°±3.1° in the model design, 10.2°±2.3° one week postoperatively, and 9.5°±3.0° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 53.2%±10.4%. There was no significant difference between preoperative design and actual measurement one week after surgery ( P>0.05). At the last follow-up, the scores of self-image (4.6±0.7), mental health (4.7±0.6) and treatment satisfaction (4.6±0.6)in SRS-22 scale were significantly improved compared with those before operation ( P<0.05). The symptoms of hemivertebra ipilateral C 8 nerve root injury occurred in 1 patient, who was treated conservatively with dehydration, hormones and nutraceutical drugs, and recovered to normal at 3 months follow-up. At the last follow-up, the appearance of the head, neck and shoulders of the patients was improved compared with that before surgery, the bone grafts have achieved osseous fusion in all patients. All fusion were grade I by Eck criterion. No complications such as serious neurological or vascular injury occurred during perioperative period. No pseudoarthrosis formation, internal fixation loosening or fracture occurred during follow-up. Conclusion:The application of 3D printing combined with O-arm navigation assistance technology in posterior hemivertebra resection and correctional surgery for cervicothoracic hemivertebra deformities can display the deformities in advance, stereoscopic and real-time, accurately place pedicle screws and complete hemivertebra resection, improve surgical safety and deformity correction rate.

Objective:To evaluate the safety and efficacy of enhanced recovery after surgery(ERAS) in the perioperative period of congenital choledochal cysts in children.Methods:This is a multicenter prospective randomized controlled study. The clinical data of 273 pediatric congenital choledochal cysts(CCC) patients who underwent surgery at 14 medical centers with complete follow-up data were collected through the medical data analysis platform. Among them, 123 cases in ERAS group were managed perioperatively in strict accordance with ERAS mode, and 150 cases in conventional group were managed according to traditional mode. The length of hospital stay,time to first farting, time to complete feeding, the incidence of complications, cost and readmission rate within 30 days,stress indexes and liver function were compared between the two groups.Results:Compared with the conventional group, median time to start farting (2.0 d vs. 3.0 d, P<0.001), median time to complete feeding (5.0 d vs. 7.0 d, P<0.001), median postoperative hospitalization time (6.0 d vs. 9.0 d, P<0.001),the median total length of stay(13.0 d vs. 15.0 d, P<0.001) were shorter,the median hospitalization cost (37,000 yuan vs.43,000 yuan P<0.001) was lower, and stress indexes recovered quickly. The incidence of postoperative hospital stay and readimission rate within 30 d were not statistically different between the two groups. Conclusion:It is safe and feasible to implement ERAS for children with CCC in the perioperative period, which can reduce stress response, speed up recovery,and save medical costs.

Objective To explore the interventional effect of repetitive transcranial magnetic stimulation (rTMS) on tardive dyskinesia (TD) in schizophrenic patients. Methods A total of 105 schizophrenic patients were selected as subjects and randomly divided into 1 Hz treatment group, 10 Hz treatment group and control group, with 35 patients in each group. All three groups received rTMS treatment for 12 weeks. The Abnormal Involuntary Movement Scale (AIMS), Scale for the Assessment of Negative Symptoms (SANS), Positive and Negative Syndrome Scale (PANSS) and Treatment Emergent Symptom Scale (TESS) scores were compared among the three groups. Physiological indicators such as electrocardiogram, blood routine, blood biochemistry and hormone levels were monitored. Results After treatment, the total AIMS scores in the 1 Hz and 10 Hz treatment groups were significantly lower than before treatment, and those in the 1 Hz and 10 Hz treatment groups were significantly lower than those in the control group (P < 0.05). The reduction rates of AIMS scores in the 1 Hz and 10 Hz treatment groups were 68.6% and 65.7%, respectively, which were significantly higher than the 22.9% in the control group (P < 0.05). After treatment, the total SANS and PANSS scores in the 1 Hz and 10 Hz treatment groups were significantly lower than before treatment, and those in the 1 Hz and 10 Hz treatment groups were significantly lower than those in the control group (P < 0.05). There was no statistically significant difference in the total AIMS score, efficacy and total PANSS score between the 1 Hz and 10 Hz treatment groups (P>0.05). There were no significant differences in the total TESS scores and physiological indicators among the three groups before and after treatment (P>0.05). Conclusion Both 1 Hz and 10 Hz rTMS can effectively improve TD in schizophrenic patients with good safety and have no significant side effects or physiological damage.

Objective:To investigate the clinical efficacy of satellite rod revision surgery via a combined anterior and posterior approach for rod fracture after posterior vertebral column resection (PVCR) in patients with severe thoracolumbar kyphosis.Methods:A retrospective case series study was conducted on the clinical data of 11 patients with rod fracture after PVCR for severe thoracolumbar kyphosis, who were treated in Henan Provincial People′s Hospital from January 2013 to January 2021. There were 6 males and 5 females, with the age range of 21-62 years [(35.4±13.0)years]. Among them, 4 patients had traumatic kyphosis, 4 presented congenital kyphosis and 3 showed tuberculous kyphosis. All the patients had obvious low back pain. According to the American Spinal Injury Association (ASIA) score, 2 patients were found with grade C, 2 with grade D and 7 with grade E. All the patients underwent revision surgery for internal fixation using satellite rod via a combined anterior and posterior approach. The operation time, intraoperative blood loss and postoperative hospital stay were recorded. The imaging parameters such as kyphosis Cobb angle, scoliosis Cobb angle, distance between C 7 plumb line and central sacral vertical line (C 7-CSVL), and distance between C 7 plumb line and sagittal vertical axis (SVA) were measured preoperatively, at 1 week postoperatively and at latest follow-up. At the same time, the visual analogue scale (VAS), Oswestry dysfunction index (ODI), and simplified Chinese version of the scoliosis research society-22 (SRS-22) questionnaire were used to evaluate the clinical efficacy. At the latest follow-up, the osteotomy fusion was evaluated by Suk criterion and ASIA score was used to evaluate the recovery of neurological function. The complications were also recorded for the patients. Results:All the patients were followed up for 24-84 months [(47.5±16.2)months]. The operation time was 100-220 minutes [(149.4±37.6)minutes], with the intraoperative blood loss of 150-350 ml [(246.3±64.6)ml] and the postoperative hospital stay of 5-8 days [(6.1±1.1)days]. The kyphosis Cobb angles [(18.5±3.2)° and (19.3±2.9)°] and the scoliosis Cobb angles [(11.8±2.2)°, (11.1±2.2)°] at 1 week post-operation and at the latest follow-up were all improved significantly compared with the preoperative ones [(60.4±6.3)°, (21.7±5.5)°] (all P<0.01), with the average correction rates being 69.4% and 45.6%, respectively, with no significant differences between 1 week post-operation and latest follow-up (all P>0.05). The C 7-CSVL was reduced from preoperative (21.2±4.3)mm to (15.7±2.4)mm at 1 week post-operation, and to (15.9±2.2)mm at the latest follow-up (all P<0.01). The SVA was improved from preoperative (51.0±6.8)mm to (16.6±3.6)mm at 1 week post-operation, and to (15.3±3.9)mm at the latest follow-up (all P<0.01). There were no significant differences in C 7-CSVL or SVA at 1 week post-operation or at the latest follow-up (all P>0.05). The VAS [(2.5±0.9)points, (1.9±0.9)points], ODI (20.1±5.4, 18.4±5.2) and SRS-22 [(83.4±5.8)points, (85.0±4.1)points] at 1 week post-operation and at the latest follow-up were significantly improved compared with the preoperative ones [(6.0±1.4)points, 57.2±8.7, (62.0±9.1)points] (all P<0.01), but no significant differences were found between 1 week post-operation and latest follow-up (all P>0.05). At the latest follow-up, the bone grafts achieved osseous fusion in all the patients, and the ASIA grade was improved from grade C to grade D in 2 patients and from grade D to grade E in 2 patients. No complications such as serious neurological or vascular injury occurred during perioperative period. No pseudoarthrosis formation, internal fixation loosening or fracture occurred during follow-up. Conclusion:Satellite rod revision surgery via a combined anterior and posterior approach for rod fracture after PVCR in patients with severe thoracolumbar kyphosis has the advantages of less trauma and faster convalescence, excellent results of deformity correction, significant pain relief, functional improvement, and fewer complications.

Objective:To investigate the clinical efficacy and precautions of O-arm combined with navigation-assisted steotomy and hemivertebra resection for congenital cervicothoracic hemivertebra.Methods:From February 2016 to October 2020, the clinical data of 12 patients with cervicothoracic hemivertebra admitted in Henan Provincial People's Hospital were retrospectively analyzed, including 5 males and 7 females, aged 9.4±2.6 years (range, 4-15 years). Intraoperative neural monitoring system was used to ensure the safety of surgical correction process and O-arm navigation system assisted the implantation of pedicle screws,hemivertebra resection, and scoliosis deformity correction. Postoperative CT was used to evaluate the accuracy of screw placement, and routine preoperative and postoperative X-ray films of the full-length spine in standing position were taken to measure the coronal and sagittal Cobb angles. The correction rate of scoliosis and kyphosis, internal fixation, shoulder height difference and bone graft fusion were calculated at the final follow-up.Results:A total of 108 pedicle screws were inserted in 12 patients, and the screw placement accuracy rate was 96.3% (104/108). The follow-up time was 37.9±10.2 months (range, 24-61 months). The number of fused segments was 5.4±1.1 (range, 4-7). One week after surgery, the correction rate of Cobb angle was 78.5%±3.2% for scoliosis and 70.1%±5.4% for kyphosis. There were statistically significant differences in side and kyphosis Angle and Scoliosis Research Society (SRS)-22 score between preoperative and 1 week after surgery ( P<0.05). There was no significant difference between the operation and the last follow-up ( P>0.05). At the last follow-up, all the 12 patients achieved gradeⅠ fusion. SI was 2.4±0.8 cm before operation, 1.0±0.6 cm at 1 week after operation, and 0.7±0.5 cm at last follow-up, and the difference was statistically significant ( F=38.30, P<0.001). No pseudojoint formation, significant loss of correction Angle, or rupture of internal fixation relaxant occurred during the operation or during follow-up. Conclusion:O-arm combined with navigation-assisted steotomy and hemivertebra resection for the treatment of congenital cervicothoracic hemivertebra has the advantages of good orthopedic effect, reduced radiation exposure and fewer complications, and accurate pedicle screw implantation and hemivertebra resection.

Objective:To analyze the postoperative paravertebral muscle degeneration and its correlations with health related quality of life (HRQL) in patients undergoing minimally invasive surgery-transforaminal lumbar interbody fusion (MIS-TLIF).Methods:The clinical data of the 50 patients were retrospectively analyzed who had undergone single-segmental MIS-TLIF at Department of Spinal Cord Surgery, The People's Hospital of Henan Province from January 2019 to December 2021. The relative volumes of lumbar posterior muscle (LM), the relative volumes of the psoas major (PM), and the rates of fatty degeneration (FD) of the fused segment and its adjacent segments were compared respectively between preoperation, 6 and 12 months postoperation. The correlations were analyzed between the HRQL scores [visual analog scale (VAS) for pain and Oswestry disability index (ODI)] and the relative LM volumes, the relative PM volumes, and the FD rates of the fused segment and its adjacent segments at 12 months postoperation.Results:Compared with the preoperative values, the relative LM volumes and the relative PM volumes of the fused segment and its adjacent segments at 6 and 12 months postoperation were significantly reduced while the FD rates significantly increased. However, the FD rate of the fused segment at 12 months postoperation (20.6% ± 6.1%) was significantly lower than that at 6 months postoperation (29.7% ± 8.2%) ( P < 0.05). The VAS score was strongly negatively or positively correlated with the relative LM volume ( r = -0.819, P < 0.001) and the FD rate ( r = 0.86, P < 0.001) of the fused segment, and moderately negatively correlated with the relative PM volume ( r = -0.435, P = 0.016). The ODI index was moderately negatively correlated with the relative LM volume ( r = -0.512, P = 0.004) and the relative PM volume ( r = -0.402, P = 0.020) of the fused segment, but moderately positively correlated with the FD rate of the fused segment ( r = 0.565, P = 0.001). There was a moderate negative correlation between the ODI index and the relative LM volume of the adjacent segments ( r = -0.478, P = 0.012). Conclusions:After MIS-TLIF, the volume of the paravertebral muscles decreases and the dorsal muscles develop fatty degeneration. The improvement of LM fatty degeneration may be observed by 12-month follow-up in the fused segment, but not in the adjacent segments. The LM volume and the FD rate of the fused segment are the most closely related to the postoperative HRQL.

Objective:To analyze the cause of varicocele (VC) recurrence and investigate the efficacy of sub-inguinal microsurgical varicocelectomy (MV) for recurrent VC.Methods:All of 16 inpatients diagnosed as recurrent VC, in the Department of Andrology of the Affiliated Hospital of Qingdao University from 2015 April to 2019 April, were performed sub-inguinal MV. The age of the inpatients was 18-36 years old, median 27 years old.5 cases were originally performed retroperitoneal high ligation of spermatic vein and other 11 cases were originally performed laparoscopic varicocelectomy. During the review one to three years after the previous operation, all of 16 patients were diagnosed as VC recurrence. The complains of these patients during the review included male subfertility (10 cases) and scrotal pain (12 cases), in which 6 cases’ complains were male subfertility with scrotal pain. After admission, 13 patients were classified as Grade Ⅲ (left in 8 cases, bilateral in 5 cases) and 3 patients as Grade Ⅱ (all left). The median of their visual analogue scale (VAS) was 2.5. Color doppler flow imaging (CDFI) grading showed: Grade Ⅲ in 12 cases (left in 7 cases, bilateral in 5 cases), Grade Ⅱ in 4 cases (all left). Particularly, 12 of them were Graded as Ⅲ simultaneously accompanying with Nut-cracker Phenomenon (NCP). Preoperative tests showed that the average serum testosterone was (16.2±4.9)nmol/ml, the average sperm concentration was (11.8±3.9)×10 6/ml and the progressive motility rate (PR) was (24.4±4.2)%. All of the patients were performed sub-inguinal MV using general anesthesia and supine position. The spermatic cords were clearly exposed and padded up by inserting gauze strips under them. During the operation, the field was magnified 4-6 times with the microscope. Then all of the dilated external and internal spermatic veins were ligated, at the same time the internal spermatic artery and lymph vessels were well preserved. During these operations, 11 patients underwent left-side MV, while other 5 did bilateral MVs. During these MVs, we found twisted and dilated external and internal spermatic veins in all cases and well preserved the internal spermatic arteries and lymph vessels. The number of ligated left and right external spermatic veins were(2.1±0.6) and (1.4±0.5)respectively and the number of ligated left and right internal spermatic veins were (10.1±1.1) and (6.6±0.5) respectively. We also found out(1.3±0.5) internal spermatic arteries and (3.0±1.0)lymph-vessels on left side. On right side, there were (1.4±0.5) internal spermatic arteries and (2.6±0.5) lymph-vessels respectively. At last, we summarily analyzed the pre-operative and post-operative VAS, serum testosterone, CDFI and semen analysis data. Results:All of the 16 sub-inguinal MVs were successfully performed. All patients were reviewed comprehensively 6 months after MV. The reviewed results showed that the post-operative VAS was significantly reduced ( Z=-2.994, P<0.05), palpable scrotal vessels disappeared and Valsalva tests were negative. No obvious reflux of internal spermatic veins were detected by CDFI. Interestingly, the sperm concentration and motility were both significantly improved 6 months after MV ( P<0.05), while there was not remarkable increase of the serum testosterone after MV ( P>0.05). During the follow up, no testicular atrophy, hydrocele and other complications were found. Up to submission, five of the ten patients who presented for male subfertility have impregnated their wives. Conclusions:The most possible cause of VC recurrence could be the omission of the external and internal spermatic veins, particularly in the grade Ⅲ VC patients or VC accompanied with NCP. The sub-inguinal MV, which can discover more twisted spermatic veins and at the same time preserve the spermatic artery and lymph-vessels, shows better clinical efficacy than other procedures.

Objective:To explore the scheme of accurate pelvic osteotomy parameters and to analyze the feasibility and efficacy of 3D printing navigation plate in developmental dysplasia of the hip surgery.Methods:From January 2015 to December 2017, a total of 18 children with DDH underwent computer-assisted Salter pelvic osteotomy (computer-assisted osteotomy group) and 25 children with DDH who underwent conventional Salter pelvic osteotomy (conventional osteotomy group) were selected for retrospective analysis. There were 11 males and 32 females with an average age of 3.2±2.5 (range 1-11) years. According to International Hip Dysplasia Institute (IHDI) classification, there were 20 cases of type 1, 9 of type 2, 12 of type 3 and 2 of type 4. All patients were unilateral dislocation, including 18 cases on the left and 25 on the right. All children underwent pelvic CT examination before operation. Further, the proximal femur was surgically corrected during the operation. According to the acetabular rotation angle (ATA) and bony acetabular index (BAI), the computer-assisted osteotomy group simulated the operation with Mimics software made 3D printing navigation plate through which an accurate osteotomy scheme was developed. The two groups were compared in operative duration, intraoperative blood loss, Japanese Orthopaedic Association (JOA) hip joint score. Acetabular index (AI), central edge (CE) angle, and acetabulum head index (AHI) were compared between the two groups by using postoperative X-ray. The acetabular tilt angle (ATA) changes before and after operation in the computer-assisted osteotomy group were compared through 3D CT.Results:The follow-up duration was 2.3±0.2 (2.0 to 2.5) years in the computer-assisted osteotomy group and 2.8±0.15 (2.5 to 3.0) years in the conventional osteotomy group. The operative duration in the computer-assisted osteotomy group was 127±20.6 min, which was significantly longer ( t=4.657, P<0.001) than that in the conventional osteotomy group (103±13.2 min). Intraoperative bleeding was 157±17.5 ml in the computer-assisted osteotomy group and 151±15.3 ml in the conventional osteotomy group without significant difference between the two groups ( t=1.195, P=0.239). At 2 years after surgery, the JOA score of the hip joint in the computer-assisted osteotomy group (86.7±8.5 points) was like that (84.8±10.0 points) in the conventional osteotomy group ( t=0.628, P=0.533). At the last follow-up, the CE angle in the computer-assisted osteotomy group (36.8°±5.2°) was significantly larger than that (31.8°±4.4°) in the conventional osteotomy group ( t=3.414, P<0.001). There was statistically significant difference in term of AHI between the computer-assisted osteotomy group (85.8%±6.6%) and the conventional osteotomy group (80.4%±8.3%, t=2.284, P=0.028). AI was 23.5°±5.5° in the computer-assisted osteotomy group and 25.2°±4.2° in the conventional osteotomy group without significant difference ( t=-1.150, P=0.257). The ATA of the affected side was 12.3°±1.4° in the computer-assisted osteotomy group which was similar ( t=0.614, P=0.547) to that of the healthy side (11.8°±2.8°). Conclusion:Based on specific anatomical parameters, computer-assisted preoperative planning can not only directly simulate the process of osteotomy, but also produce individualized 3D printed guide plates. Compared with conventional Salter pelvic osteotomy, computer-assisted osteotomy can achieve accurate radiographic correction of the hip joint in children with DDH, resulting in a better matching relationship between the femoral head and acetabulum.

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls. RESULTS: A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected members of the pedigree or the 100 healthy controls. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.3293G>T variant was classified as pathogenic (PP1-strong+PM1+PM2+PP3+PP4). CONCLUSION By destructing the Gly-X-Y structure of its protein product, the c.3293G>T variant of the COL4A5 gene probably underlies the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COL4A5 variants.