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

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

A 33-year-old woman visited the emergency department presenting with fever and dyspnea. She was pregnant with gestational age of 31 weeks and 6 days. She had dysuria for 7 days, and fever and dyspnea for 1 day. The vital signs were as follows: blood pressure 110/70 mmHg, heart rate 118 beats/minute, respiratory rate 28/minute, body temperature 38.7℃, and oxygen saturation by pulse oximetry 84% during inhalation of 5 liters of oxygen by nasal prongs. Crackles were heard over both lung fields. There were no signs of uterine contractions. Chest X-ray and chest computed tomography scan showed multiple consolidations and air bronchograms in both lungs. According to urinalysis, there was pyuria and microscopic hematuria. She was diagnosed with community-acquired pneumonia and urinary tract infection (UTI) that progressed to severe sepsis and acute respiratory failure. We found extended-spectrum beta-lactamase producing Escherichia coli in the blood culture and methicillin-resistant Staphylococcus aureus in the sputum culture. The patient was transferred to the intensive care unit with administration of antibiotics and supplementation of high-flow oxygen. On hospital day 2, hypoxemia was aggravated. She underwent endotracheal intubation and mechanical ventilation. After 3 hours, fetal distress was suspected. Under 100% fraction of inspired oxygen, her oxygen partial pressure was 87 mmHg in the arterial blood. She developed acute kidney injury and thrombocytopenia. We diagnosed her with multi-organ failure due to severe sepsis. After an emergent cesarean section, pneumonia, UTI, and other organ failures gradually recovered. The patient and baby were discharged soon thereafter.
Acute Kidney Injury ; Adult ; Anoxia ; Anti-Bacterial Agents ; beta-Lactamases ; Blood Pressure ; Body Temperature ; Cesarean Section ; Dyspnea ; Dysuria ; Emergency Service, Hospital ; Escherichia coli ; Female ; Fetal Distress ; Fever ; Gestational Age ; Heart Rate ; Hematuria ; Humans ; Inhalation ; Intensive Care Units ; Intubation, Intratracheal ; Lung ; Methicillin-Resistant Staphylococcus aureus ; Oximetry ; Oxygen ; Partial Pressure ; Pneumonia ; Pregnancy Complications, Infectious ; Pregnancy ; Pyuria ; Respiration, Artificial ; Respiratory Insufficiency ; Respiratory Rate ; Respiratory Sounds ; Sepsis ; Sputum ; Thorax ; Thrombocytopenia ; Urinalysis ; Urinary Tract Infections ; Uterine Contraction ; Vital Signs

Objective: To investigate the clinical effect and feasibility of internal spermatic vein-inferior epigastric vein (ISV-IEV) bypass surgery in the treatment of varicocele complicated by left renal vein nutcracker syndrome (NCS). METHODS: We retrospectively analyzed the clinical data about 30 cases of varicocele with left renal vein NCS treated by ISV-IEV bypass surgery in our hospital from June 2014 to February 2017. We reviewed the follow-up data and results of ultrasonography, routine urianlysis and semen routine examination. RESULTS: All the operations were successfully accomplished and postoperative color Doppler ultrasonography showed that varicocele was cured in all the cases. At 6 months after surgery, sperm concentration and the percentage of grade a+b sperm were significantly improved (［34.47 ± 8.60］ ×10⁶/ml and ［63.54% ± 9.58］ %) as compared with the baseline (［19.90 ± 8.97］ ×10⁶/ml and ［37.93 ± 8.73］ %) (P <0.05). Hematuria was cured in 23 and alleviated in 1 of the 24 cases. Proteinuria disappeared in all the 14 cases, with neither scrotal pain symptoms nor obvious complications. CONCLUSIONS ISV-IEV bypass surgery, with its advantages of safety, effectiveness, minimal invasiveness, and simple operation, deserves wide clinical application in the treatment of varicocele with left renal vein NCS.
Anastomosis, Surgical ; methods ; Feasibility Studies ; Hematuria ; surgery ; Humans ; Male ; Microsurgery ; methods ; Proteinuria ; surgery ; Renal Nutcracker Syndrome ; complications ; Renal Veins ; Retrospective Studies ; Ultrasonography ; Ultrasonography, Doppler, Color ; Varicocele ; complications ; diagnostic imaging ; surgery ; Vascular Surgical Procedures ; methods ; Veins ; surgery

Some cases of Middle East Respiratory Syndrome-Coronavirus (MERS-CoV) infection presented renal function impairment after the first MERS-CoV patient died of progressive respiratory and renal failure. Thus, MERS-CoV may include kidney tropism. However, reports about the natural courses of MERS-CoV infection in terms of renal complications are scarce. We examined 30 MERS-CoV patients admitted to National Medical Center, Korea. We conducted a retrospective analysis of the serum creatinine (SCr), estimated glomerular filtration rate (eGFR), urine dipstick tests, urinary protein quantitation (ACR or PCR), and other clinical parameters in all patients. Two consecutive results of more than trace (or 1+) of albumin and blood on dipstick test occurred in 18 (60%) (12 [40%]) and 22 (73.3%) (19 [63.3%]) patients, respectively. Fifteen (50.0%) patients showed a random urine ACR or PCR more than 100 mg/g Cr. Eight (26.7%) patients showed acute kidney injury (AKI), and the mean and median durations to the occurrence of AKI from symptom onset were 18 and 16 days, respectively. Old age was associated with a higher occurrence of AKI in the univariate analysis (HR [95% CI]: 1.069 [1.013-1.128], P = 0.016) and remained a significant predictor of the occurrence of AKI after adjustment for comorbidities and the application of a mechanical ventilator. Diabetes, AKI, and the application of a continuous renal replacement therapy (CRRT) were risk factors for mortality in the univariate analysis (HR [95% CI]: diabetes; 10.133 [1.692-60.697], AKI; 12.744 [1.418-114.565], CRRT; 10.254 [1.626-64.666], respectively). Here, we report renal complications and their prognosis in 30 Korean patients with MERS-CoV.
Acute Kidney Injury/*etiology/mortality/therapy ; Adult ; Aged ; Coronavirus Infections/*complications/physiopathology ; Creatinine/blood ; Female ; Glomerular Filtration Rate ; Hematuria/etiology ; Hospitals ; Humans ; Male ; Middle Aged ; Prognosis ; Proteinuria/etiology ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors

OBJECTIVETo study the clinical characteristics of children with an initial onset of IgA nephropathy with nephrotic syndrome and compare them with children with primary nephrotic syndrome, in order to provide a theoretical basis for the differential diagnosis of the two diseases.

METHODSFifty children diagnosed with an initial onset of IgA nephropathy with nephrotic syndrome were included in this study. Seventy-two children diagnosed with an initial onset of primary nephrotic syndrome served as the control group. The clinical and laboratory examination characteristics were compared between the two groups.

RESULTSThe IgA nephropathy group had significantly higher incidence rates of gross haematuria, microscopic haematuria, hypertension, acute kidney injury, low serum high-density lipoprotein cholesterol, anemia, low serum complement C4, steroid resistance, and nephritis-type nephrotic syndrome and a significantly lower incidence of elevated serum IgE compared with the control group (P<0.05). There were significant differences in serum creatinine, serum uric acid, serum total cholesterol, serum high-density lipoprotein cholesterol, serum IgE, serum complement C4, and hemoglobin levels between the IgA nephropathy and the control groups (P<0.05). The thresholds of serum IgE (<131.2 IU/mL) and high-density lipoprotein cholesterol (<1.35 mmol/L) were reference parameters in the differential diagnosis of IgA nephropathy with nephrotic syndrome and primary nephrotic syndrome.

CONCLUSIONSChildren with IgA nephropathy presenting nephrotic syndrome manifest mainly as nephritis type and steroid-resistant type in the clinical classification. Cinical manifestations accompanied by serum levels of high-density lipoprotein cholesterol and IgE are helpful for differential diagnosis of IgA nephropathy presenting nephrotic syndrome and primary nephrotic syndrome.

Adolescent ; Child ; Child, Preschool ; Cholesterol, HDL ; blood ; Complement C4 ; analysis ; Female ; Glomerulonephritis, IGA ; blood ; complications ; Hematuria ; etiology ; Humans ; Immunoglobulin E ; blood ; Male ; Nephrotic Syndrome ; blood ; complications

BACKGROUND: To assess the functional outcomes and morbidity in patients undergoing holmium laser enucleation of the prostate (HoLEP) with and without previous transurethral prostate surgery. METHODS: Patients were stratified into two groups, 558 patients who underwent primary HoLEP (group I) and 50 patients who underwent 'secondary-HoLEP' with prior transurethral prostate surgery (group II). RESULTS: There were no significant differences in the preoperative parameters (median age, International Prostate Symptom Score [IPSS], prostate-specific antigen [PSA], prostate volume, maximum urinary flow rate [Qmax], and postvoid residual urine volume [PVR]). No significant intraoperative differences were noted in the use of total energy, resected volume, enucleation time, resection efficiency, and mean catheterization time. There were significant improvements in Qmax, PVR, and IPSS in both groups. Complications in groups I and II included 19 (3.1%) and 1 (2.0%) bladder injuries, 25 (4.4%) and 2 (4.0%) recatheterization for transient voiding difficulty, 20 (3.5%) and 2 (4%) cases of severe hematuria requiring additional treatment, and 5 (0.8%) and 0 cases for remorcellation due to remaining adenoma. Transient incontinence was the most common complication for both groups I and II, 30 cases (5.4%) and 3 cases (6.0%) respectively. Urinary tract infection showed improvement subsequent to antibiotic treatment. During the 6 month follow-up period, urethral stricture occurred in 7 cases (1.3%) for group I and in 1 case (2.0%) for group II. CONCLUSION: There were no significant differences in functional outcomes and morbidity between the two groups. 'Secondary-HoLEP' seems to be effective and safe for patients with prior BPH surgery.
Adenoma ; Catheterization ; Catheters ; Follow-Up Studies ; Hematuria ; Humans ; Lasers, Solid-State* ; Postoperative Complications ; Prostate* ; Prostate-Specific Antigen ; Prostatic Hyperplasia* ; Transurethral Resection of Prostate ; Urethral Stricture ; Urinary Bladder ; Urinary Tract Infections

OBJECTIVETo investigate the clinicopathological characteristics and the prognosis of bladder neuroendocrine carcinoma (NEC).

METHODSClinicopathological data from 17 NEC of the bladder cases were collected, and immunohistochemical staining was performed with follow-up analysis and literature review.

RESULTSThe recruited included 13 male and 4 female patients, aged from 48 to 86 years old (average 61 years; 14 patients >60 years). Gross hematuria of the whole urination course or intermittent was the initial symptom. Macroscopically, the outer surface of the tumor presented with polypoid, lobulated, fungating or ulcerous structures. Histologically, according to the criteria of WHO classification of neuroendocrine tumor of the lung, our NEC cases were divided into three histological types: 13 cases of small cell carcinoma, 3 cases of large cell neuroendocrine carcinoma and 1 case of atypical carcinoid. The urothelial carcinoma was concurrent with NEC in 6 cases, and adenocarcinoma was concurrent with NEC in 2 cases. Most tumor tissue infiltrated to the muscular layer, some infiltrated to the outer membrane. Immunohistochemically, the positive expression rates of CD56, Syn and CgA were 16/17, 16/17 and 12/17, respectively. The epithelial markers, including CK7 and CKpan, were also expressed with positive rates of 12/17 and 15/17, respectively. TTF-1 was positively expressed in 11 cases. The follow-up data were available in 14 cases, of which 9 patients died of the tumor 1-34 months after surgery (average, 11 months). Five patients lived uneventfully for 1-12 months after surgery.

CONCLUSIONSNEC is a rare malignant tumor of the bladder. Immunohistochemical markers such as CD56, Syn, CgA and CKpan could be helpful in determining the diagnosis and differential diagnosis of the tumor. NEC is a highly invasive malignant tumor with poor prognosis. Based on its biological behavior, radical cystectomy is the preferred method of treatment for the tumor.

Adenocarcinoma ; pathology ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; Carcinoma, Large Cell ; pathology ; Carcinoma, Neuroendocrine ; classification ; complications ; pathology ; Carcinoma, Small Cell ; pathology ; Carcinoma, Transitional Cell ; classification ; complications ; pathology ; Cystectomy ; Female ; Hematuria ; etiology ; Humans ; Male ; Middle Aged ; Neuroendocrine Tumors ; classification ; pathology ; Prognosis ; Urinary Bladder Neoplasms ; classification ; complications ; pathology

OBJECTIVETo determine the exact location of the opening of the ejaculatory duct in men and provide some basic anatomical evidence for seminal vesiculoscopy and the treatment of ejaculatory duct obstruction.

METHODSWe performed ureterocystoscopy for 21 male patients aged 26 - 47 years with hematuria (n = 12), hematospermia (n = 2), glandular cystitis (n = 6), and anejaculation after radical resection of rectal carcinoma (n = 1), and meanwhile, with the consent of the patients, massaged the prostate and ejaculatory duct and observed the outlet of the expelled fluid. Under the microscope, we described the fluid samples with sperm as the expulsion from the ejaculatory duct.

RESULTSUreterocystoscopy showed that the exact anatomical sites of the expulsion of prostatic fluid and semen in the patients were the side and lower side of the prostatic utricle opening above the verumontanum and the ventral side of the verumontanum. Quantities of sperm were found in the expulsion fluid of 13 of the patients, and no expulsion, including semen, was seen from the prostatic utricle opening.

CONCLUSIONAnatomically, the ejaculatory duct openings of males are located at the two sides of the verumontanum adjacent to the opening of the prostatic utricle, rather than in the prostatic utricle above the verumontanum.

Adult ; Cystoscopes ; Ejaculation ; physiology ; Ejaculatory Ducts ; anatomy & histology ; physiology ; Endoscopy ; instrumentation ; methods ; Hematuria ; Hemospermia ; Humans ; Male ; Middle Aged ; Postoperative Complications ; Prostate ; anatomy & histology ; physiology ; Rectal Neoplasms ; surgery ; Semen ; secretion ; Spermatozoa

PURPOSE: Behcet's disease (BD) theoretically affects all sizes and types of blood vessels and results in multi-organ involvement. However, renal BD has not been fully characterized, though the kidneys are histologically rich in blood vessels. MATERIALS AND METHODS: A total of 2007 patients who fulfilled the diagnostic criteria for BD were enrolled in this study. We reviewed the medical records and test results of the BD patients and used univariate and multivariate logistic regression analyses to determine the clinical significance of renal involvement in BD. RESULTS: Among the 2007 BD patients, we noted hematuria in 412 (20.5%) and proteinuria in 29 (1.4%). Univariate analysis showed that the BD patients with hematuria were predominantly female and older, had higher erythrocyte sedimentation rates (ESRs), and more frequently presented with genital ulcerations. BD patients with proteinuria had higher ESR levels compared to BD patients without proteinuria. In the multivariate analysis, age, sex, and ESR were found to be significantly associated with hematuria in BD patients, whereas only ESR was associated with proteinuria in BD patients. We also found that IgA nephropathy was the most common pathologic diagnosis in 12 renal BD patients who underwent renal biopsies. CONCLUSION: We suggest that routine urinalysis and serum renal function tests be performed for the early detection of renal BD, especially in older female BD patients with recurrent hematuria, high ESR levels, and frequent genital ulcers, as well as in BD patients with proteinuria and high ESR levels.
Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Behcet Syndrome/*complications/epidemiology/*metabolism ; Biopsy ; Female ; Glomerulonephritis, IGA/complications/diagnosis ; Hematuria/complications/diagnosis ; Humans ; Kidney/*pathology ; Kidney Diseases/*diagnosis ; Logistic Models ; Male ; Middle Aged ; Multivariate Analysis ; Proteinuria/complications/diagnosis ; Republic of Korea ; Young Adult