OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a patient with Alport syndrome. METHODS: A patient with Alport syndrome who had visited the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the patient were collected. High-throughput sequencing was carried out to detect potential variant of the COL4A3, COL4A4 and COL4A5 genes, and Sanger sequencing was carried out for verification of candidate variants in the family. RESULTS: The main clinical manifestations of the patient included hematuria, proteinuria, and impaired hearing. Audiometric testing suggested symmetrical cochlear sensory neural hearing loss on both sides. Renal biopsy revealed mild mesangial proliferative glomerulonephritis. Genetic testing revealed that the patient has harbored compound heterozygous variants of the COL4A4 gene, namely c.940G>A (p.Gly314Ser) and c.3773G>A (p.Gly1258Asp), which were respectively inherited from her father and mother. Neither variant has been reported before, and were predicted to be pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The c.940G>A (p.Gly314Ser) and c.3773G>A (p.Gly1258Asp) compound heterozygous variants of the COL4A4 gene probably underlay the Alport syndrome in this patient. Above finding has enriched the mutational spectrum of the COL4A4 gene.
Female ; Humans ; Nephritis, Hereditary/genetics* ; Hematuria ; Genetic Testing ; Genomics ; Hearing ; Collagen Type IV/genetics*

OBJECTIVE: To compare the safety and effectiveness of active migration technique and in situ lithotripsy technique in the treatment of 1-2 cm upper ureteral calculi by retrograde flexible ureteroscopy. METHODS: A total of 90 patients with 1-2 cm upper ureteral calculi treated in the urology department of Beijing Friendship Hospital from August 2018 to August 2020 were selected as the subjects. The patients were divided into two groups using random number table: 45 patients in group A were treated with in situ lithotripsy and 45 patients in group B were treated with active migration technique. The active migration technique was to reposition the stones in the renal calyces convenient for lithotripsy with the help of body position change, water flow scouring, laser impact or basket displacement, and then conduct laser lithotripsy and stone extraction. The data of the patients before and after operation were collected and statistically analyzed. RESULTS: The age of the patients in group A was (51.6±14.1) years, including 34 males and 11 females. The stone diameter was (1.48±0.24) cm, and the stone density was (897.8±175.9) Hu. The stones were located on the left in 26 cases and on the right in 19 cases. There were 8 cases with no hydronephrosis, 20 cases with grade Ⅰ hydronephrosis, 11 cases with grade Ⅱ hydronephrosis, and 6 cases with grade Ⅲ hydronephrosis. The age of the patients in group B was (51.8±13.7) years, including 30 males and 15 females. The stone diameter was (1.52±0.22) cm, and the stone density was (964.6±214.2) Hu. The stones were located on the left in 22 cases and on the right in 23 cases. There were 10 cases with no hydronephrosis, 23 cases with grade Ⅰ hydronephrosis, 8 cases with grade Ⅱ hydronephrosis, and 4 cases with grade Ⅲ hydronephrosis. There was no significant diffe-rence in general parameters and stone indexes between the two groups. The operation time of group A was (67.1±16.9) min and the lithotripsy time was (38.0±13.2) min. The operation time of group B was (72.2±14.8) min and the lithotripsy time was (40.6±12.6) min. There was no significant difference between the two groups. Four weeks after operation, the stone-free rate in group A was 86.7%, and in group B was 97.8%. There was no significant difference between the two groups. In terms of complications, 25 cases of hematuria, 16 cases of pain, 10 cases of bladder spasm and 4 cases of mild fever occurred in group A. There were 22 cases of hematuria, 13 cases of pain, 12 cases of bladder spasm and 2 cases of mild fever in group B. There was no significant difference between the two groups. CONCLUSION Active migration technique is safe and effective in the treatment of 1-2 cm upper ureteral calculi.
Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Ureteral Calculi/surgery* ; Hematuria/therapy* ; Ureteroscopy/methods* ; Lithotripsy/methods* ; Lithotripsy, Laser/methods* ; Hydronephrosis/complications* ; Pain ; Treatment Outcome ; Retrospective Studies

OBJECTIVES: To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS). METHODS: A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations. RESULTS: Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset. CONCLUSIONS This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations.
Humans ; Nephritis, Hereditary/pathology* ; Hematuria/complications* ; Retrospective Studies ; Collagen Type IV/genetics* ; Genotype ; Mutation

OBJECTIVES: To investigate the clinical characteristics, pathology, and prognosis of children with diffuse endocapillary proliferative Henoch-Schönlein purpura nephritis (DEP-HSPN). METHODS: A retrospective analysis was performed on the clinical, pathological, and prognosis data of 44 children with DEP-HSPN and 765 children without DEP-HSPN. The children with DEP-HSPN were diagnosed by renal biopsy in Jiangxi Provincial Children's Hospital from January 2006 to December 2021. RESULTS: Among the 809 children with purpura nephritis, 44 (5.4%) had DEP-HSPN, with a mean age of (8±3) years, and there were 29 boys (65.9%) and 15 girls (34.1%). Compared with the non-DEP-HSPN group, the DEP-HSPN group had a significantly shorter time from onset to renal biopsy and a significantly higher proportion of children with respiratory infection or gross hematuria, and most children had nephrotic syndrome. The DEP-HSPN group had significantly higher levels of 24-hour urinary protein, urinary protein grading, microscopic hematuria grading, serum creatinine, and blood urea nitrogen and significantly lower levels of serum albumin and complement C3 (P<0.05). The DEP-HSPN group had a higher pathological grading, with predominant deposition of IgA in the mesangial area and capillary loops, and higher activity scores in the modified semi-quantitative scoring system (P<0.05). The Kaplan-Meier survival analysis showed that there was no significant difference in the renal complete remission rate between the two groups (P>0.05). CONCLUSIONS Children with DEP-HSPN have a rapid onset, severe clinical manifestations and pathological grading, and high activity scores in the modified semi-quantitative scoring system. However, most of the children with DEP-HSPN have a good prognosis, with a comparable renal complete remission rate to the children without DEP-HSPN.
Male ; Female ; Humans ; Child ; Child, Preschool ; Hematuria ; IgA Vasculitis ; Retrospective Studies ; Prognosis ; Nephritis

Child ; Humans ; Clonidine/therapeutic use* ; Hematuria ; Arginine

Objective: One of the common clinical problems warranting urologic evaluation is asymptomatic microscopic hematuria (AMH). According to some studies, it has prevalence as high as 38% with a possibility of urologic disease or malignancy around 23%. The presence of AMH would be quite a dilemma to a urologist in terms of how aggressive urologic evaluation and follow up is recommended. The present study was to determine the incidence of significant urologic diseases among Filipino patients with AMH on initial evaluation and on follow-up. This study would also determine if there would be a significant difference in terms of incidence of urologic disease among patients less than 35 years old and more than 35 years old with AMH. Methods: A total number of 95 patients (38 male, 57 female) were included in this study. All patients presented with AMH. They were grouped in terms of age, gender, and duration of follow-up. All patients underwent cystoscopy and a diagnostic imaging (ultrasound, CT urogram, or CT stonogram) on initial evaluation. Patients then were followed up. They were divided into two groups, those less than 2 years of follow-up and those more than 2 years of follow-up. Excluded from the study are those patients with gross hematuria, on indwelling catheter, with urinary tract infection, with previous malignancy, history of pelvic irradiation, and those who did not undergo cystoscopy, or any urologic imaging. Results: Out of 95 patients with AMH who underwent urologic evaluation, the incidence of urologic disease was noted to be 12% (11 out of 95). There was no malignancy related cause of AMH discovered. Age and gender failed to show any significant difference in terms of developing urologic disease. Among patients with negative findings on initial urologic evaluation, no urologic disease was noted even on follow-up. Among those with positive findings on initial evaluation, no new urologic disease was discovered on follow-up. Conclusion AMH has a low incidence of urologic disease or any GUT malignancy. Age and gender alone are not sufficient risk factors warranting an invasive endoscopic procedure. They are recommended only to those patients with high risk of urologic disease and can be avoided in majority of the population. We would recommend a kidney, urinary bladder, and prostate (KUBP) ultrasound as the initial imaging of choice since the only findings noted on evaluation through imaging were just two cases of nephrolithiasis, one via CT stonogram and the other through a CT urogram, which can also be diagnosed with a regular KUBP ultrasound. This would be more cost-effective as well as beneficial in terms of the patient’s risk regarding radiation and contrast-related effects. Clinicians may decrease unnecessary repeated urologic evaluation and follow-ups on patients with AMH, as the results of the study failed to show any significant difference in developing urologic disease for patients with persistent AMH on initial assessment and even on follow-up.
Urologic Diseases ; Hematuria

A girl aged 12 years and 2 months presented with recurrent abdominal pain and vomiting for more than 2 years and arthrodynia for 3 months. She was diagnosed with recurrent acute pancreatitis with unknown causes and had been admitted multiple times. Laboratory tests showed recurrent significant increases in fasting serum triglyceride, with elevated immunoglobulin and positive antinuclear antibody. The girl was improved after symptomatic supportive treatment. The girl developed arthrodynia with movement disorders 3 months before, and proteinuria, hematuria, and positive anti-double-stranded DNA antibody were observed. The renal biopsy was performed, and the pathological examination and immunofluorescence assay suggested diffuse lupus nephritis (type Ⅳ). She was finally diagnosed with systemic lupus erythematosus (SLE), lupus nephritis (type Ⅳ), and recurrent acute pancreatitis. Pancreatitis was suspected to be highly associated with SLE. She was treated with oral hydroxychloroquine sulfate and intravenous methylprednisolone sodium succinate and cyclophosphamide. Arthrodynia was partially relieved. She was then switched to oral prednisone acetate tablets. Intravenous cyclophosphamide and pump infusion of belimumab were regularly administered. Now she had improvement in arthrodynia and still presented with proteinuria and hematuria. It is concluded that recurrent acute pancreatitis may be the first clinical presentation of SLE. For pancreatitis with unknown causes, related immunological parameters should be tested, and symptoms of the other systems should be closely monitored to avoid delaying the diagnosis.
Abdominal Pain ; Acute Disease ; Antibodies, Antinuclear ; Cyclophosphamide ; Female ; Hematuria ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Pancreatitis ; Proteinuria ; Triglycerides ; Vomiting

OBJECTIVES: Tubulointerstitial diseases is one of the common causes of renal dysfunction. Some rare pathological types are easy to be misdiagnosed and missedly diagnosed because of their low prevalence and relatively insufficient understanding, which affects the treatment and prognosis of patients. This study aims to explore clinical manifestations and pathological characteristics of several rare tubulointerstitial diseases, and therefore to improve their diagnosis and treatment. METHODS: A total of 9 363 patients diagnosed by renal biopsy in the Department of Nephrology, Second Xiangya Hospital, Central South University from November 2011 to September 2021 were selected. Six cases of light chain cast nephropathy (LCCN), 2 cases of light chain proximal tubulopathy (LCPT), 1 case of LCCN with LCPT, 4 cases of genetic tubulointerstitial disease, and 6 cases of non-genetic related tubulointerstitial lesion were screened out, and their clinical manifestations and renal biopsy pathological results were collected, compared, and analyzed. RESULTS: Patients with LCCN presented with mild to moderate anemia, microscopic hematuria, and mild to moderate proteinuria. Compared with patients with LCPT, proteinuria and anemia were more prominent in patients with LCCN. Five patients with LCCN and 2 patients with LCPT had elevated serum free kappa light chain. Five patients with LCCN presented clinically with acute kidney injury (AKI). Two patients with LCPT and 1 patient with LCCN and LCPT showed CKD combined with AKI, and 1 LCPT patient presented with typical Fanconi syndrome (FS). Five patients with LCCN, 2 patients with LCPT, and 1 patient with LCCN and LCPT were diagnosed with multiple myeloma. Five patients with LCCN had kappa light chain restriction in tubules on immunofluorescence and a "fractured" protein casts with pale periodic acid-Schiff (PAS) staining on light microscopy. Immunohistochemical staining of 2 LCPT patients showed strongly positive kappa light chain staining in the proximal tubular epithelial cells. And monoclonal light chain crystals in crystalline LCPT and abnormal lysosomes and different morphological inclusion bodies in noncrystalline LCPT were observed under the electron microscope. Six patients with LCCN were mainly treated by chemotherapy. Renal function was deteriorated in 1 patient, was stable in 4 patients, and was improved in 1 patient. Two patients with LCPT improved their renal function after chemotherapy. Four patients with genetic tubulointerstitial disease were clinically presented as CKD, mostly mild proteinuria, with or without microscopic hematuria, and also presented with hyperuricemia, urine glucose under normal blood glucose, anemia, polycystic kidneys. Only 1 case had a clear family history, and the diagnosis was mainly based on renal pathological characteristics and genetic testing. Compared with patients with non-genetic related tubulointerstitial lesion, patients with genetic tubulointerstitial disease had an earlier age of onset, higher blood uric acid, lower Hb and estiated glomemlar fitration (eGFR), and less edema and hypertension. Renal pathology of genetic tubulointerstitial disease presented tubular atrophy and interstitial fibrosis, abnormal tubular dilation, glomerular capsuledilation, and glomerular capillary loop shrinkage. Glomerular dysplasia and varying degrees of glomerular sclerosis were observed. Genetic tubulointerstitial disease patients were mainly treated with enteral dialysis, hypouricemic and hypoglycemic treatment. Two genetic tubulointerstitial disease patients had significantly deteriorated renal function, and 2 patients had stable renal function. CONCLUSIONS Patients with AKI or FS, who present serum immunofixation electrophoresis and/or serum free kappa light chain abnormalities, should be alert to LCCN or LCPT. Renal biopsy is a critical detection for diagnosis of LCCN and LCPT. Chemotherapy and stem cell transplantation could delay progression of renal function in patients with LCCN and LCPT. If the non-atrophic area of the renal interstitium presents glomerular capsule dilatation, glomerular capillary loop shrinkage, and abnormal tubular dilatation under the light microscopy, genetic tubulointerstitial disease might be considered, which should be traced to family history and can be diagnosed by genetic testing.
Humans ; Hematuria ; Immunoglobulin Light Chains/analysis* ; Multiple Myeloma ; Proteinuria ; Nephritis, Interstitial ; Acute Kidney Injury ; Anemia ; Renal Insufficiency, Chronic

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with X-linked hereditary Alport syndrome. METHODS: Next generation sequencing was carried out for the pedigree. Candidate variant was validated by Sanger sequencing. Pathological changes of renal basement membrane and expression of COL4A5 protein were analyzed by renal biopsy and immunofluorescence assay, respectively. RESULTS: All patients from the pedigree manifested progressive renal damage, gross hematuria, proteinuria and nephrotic syndrome. Renal biopsy of the proband revealed thickening of the basement membrane. No expression of the COL4A5 gene was detected by immunofluorescence. High-throughput sequencing and Sanger sequencing indicated that the proband has carried a c.3706delC (p.1236Pfs*69) variant in exon 41 of the COL4A5 gene. The same variant was also found in his mother and two brothers whom were similarly affected. CONCLUSION The novel c.3706delC (p.1236Pfs*69) variant of the COL4A5 gene probably underlay the pathogenesis of X-linked hereditary Alport syndrome in this pedigree. Above findings have enriched the spectrum of COL4A5 gene variants and provided a basis for the diagnosis and genetic counseling for the pedigree.
Collagen Type IV/genetics* ; Hematuria ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Nephritis, Hereditary/genetics* ; Pedigree

Objective: To investigate the advantages and disadvantages of point electro-cauterization (PEC) and holmium laser cauterization (HLC) in the treatment of post-ejaculation hematuria. METHODS: From January 2015 to December 2018, 73 patients with post-ejaculation hematuria, aged 24－63 (36.8 ± 4.2) years, underwent PEC (n = 35) or HLC (n = 38) after failure to respond to 3 months of conservative treatment. We compared the hospital days, total hospitalization expenses, maximum urinary flow rate (Qmax), average urinary flow rate (Qavg), Hamilton Anxiety Rating Scale (HAMA) score, postoperative duration of hematuria, and recurrence rate at 3 and 6 months after surgery. RESULTS: All the patients experienced first ejaculation but no post-ejaculation hematuria at 1 month after operation. The recurrence rates were lower in the PEC than in the HLC group at 3 months (5.71% vs 2.63%, P > 0.05) and 6 months postoperatively (8.57% vs 5.26%, P > 0.05). Compared with the baseline, the Qmax was decreased from (18.56 ± 2.53) ml/s to (13.68 ± 3.31) ml/s (P < 0.05) and the Qavg from (14.35 ± 2.26) ml/s to (9.69±1.84) ml/s in the PEC group at 1 month after surgery (P < 0.01), but neither showed any statistically significant difference in the HLC group. Mild to moderate anxiety was prevalent in the patients preoperatively, particularly in those without job or regular income and those with a long disease course or frequent onset, the severity of which was not correlated with age, education or marital status. The HAMA score was decreased from18.65 ± 4.33 before to 12.35 ± 3.63 after surgery in the PEC group (P < 0.01), and from 16.88 ± 2.11 to 6.87 ± 4.36 in the HLC group (P < 0.01). The mean hospital stay was significantly longer in the former than in the latter group (［5.2 + 1.3］ vs ［3.4 ± 0.5］ d, P < 0.01), while the total cost markedly lower (［6.35 ± 1.20］ vs ［12.72 ± 2.15］ thousand RMB ¥, P < 0.05). CONCLUSIONS Both PEC and HLC are safe and effective for the treatment of post-ejaculation hematuria, with no significant difference in the recurrence rate at 3 and 6 months after operation, but their long-term effect needs further follow-up studies. PEC may increase the risk of negative outcomes of the postoperative urinary flow rate, while HLC has the advantages of better relieving the patient's anxiety, sooner discharge from hospital and earlier recovery from postoperative hematuria, though with a higher total cost than the former.
Adult ; Cautery ; Ejaculation ; Hematuria/surgery* ; Holmium ; Humans ; Laser Therapy ; Lasers, Solid-State/therapeutic use* ; Male ; Middle Aged ; Treatment Outcome ; Young Adult