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

Bladder cancer is a urological malignant tumor with high morbidity and mortality. Masses protruding into the bladder cavity is an important feature for clinical diagnosis of bladder cancer. However,patients with encrusted bladder cancer(EBC)do not present with masses protruding into the bladder cavity and thus this malignancy is often misdiagnosed. Four patients were admitted in Peking University People's Hospital from July 2015 to February 2017. All of them were males aged 40 to 77 years(mean:58 years). Patients were mainly manifested as frequent urination,urgency,nocturia,and decreased bladder capacity,with or without difficulty of voiding.Although the bladder walls were markedly thickened,there was no obvious mass on imaging scans. Three patients received urodynamic test,which showed the maximum capacity of the bladder was 41 to 128 ml(mean:91 ml). One patient presented with gross hematuria,two patients presented with microscopic hematuria,and the remaining one patient had no hematuria. No mass was observed by cystoscopy. All of the patients were diagnosed with bladder cancer by repeated biopsy or intraoperative frozen section analysis.
Adult ; Aged ; Biopsy ; Cystoscopy ; Hematuria ; Humans ; Male ; Middle Aged ; Urinary Bladder Neoplasms ; diagnosis ; pathology

PURPOSE: We aimed to study clinicopathological parameters and complications of patients who underwent magnetic resonance imaging-transrectal ultrasonography fusion guided prostate biopsy (MRI-TRUS FGB). MATERIALS AND METHODS: We investigated 576 patients who underwent MRI-TRUS FGB of prostate from May 2003 to December 2017 retrospectively. The clinicopathological features and complications were presented, using the modified Clavien-Dindo classification system. RESULTS: Fourteen patients (2.4%) readmitted within 30 days after MRI-TRUS FGB due to complications, and 85.7% (12 of 14) of them complained mild to moderate complications, the Clavien-Dindo classification grades I and II. The most common complication was hematuria (n=5, 0.9%), followed by acute urinary retention (n=3, 0.5%), dysuria (n=2, 0.3%), fever (n=1, 0.2%), hematochezia (n=1, 0.2%). According to multivariate analysis, only age was the significant risk factor of overall complications and bleeding related complications. Two hundred thirteen patients were diagnosed as prostate cancer after MRI-TRUS FGB. When the Likert suspicious scale of prostate cancer on apparent diffusion coefficient (ADC) was ≤4, 27.8% (137 of 493) were diagnosed as prostate cancer, of whom 56.2% (77 of 137) were confirmed as prostate cancer only at randomized 12 cores. When the ADC suspicious level was grade 5, 91.6% (76 of 83) were diagnosed as prostate cancer, of whom 11.8% (7 of 76) were confirmed as prostate cancer only at randomized 12 cores. CONCLUSIONS: The present study demonstrates the safety of MRI-TRUS FGB in terms of complications. When ADC suspicious level is grade 5, MRI-TRUS FGB alone could be a reasonable measure to diagnose prostate cancer, but randomized 12-core prostate biopsy would be recommended additionally when ADC suspicious level is ≤4.
Biopsy ; Classification ; Diffusion ; Dysuria ; Fever ; Gastrointestinal Hemorrhage ; Hematuria ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Multivariate Analysis ; Pathology ; Prostate ; Prostatic Neoplasms ; Retrospective Studies ; Risk Factors ; Ultrasonography ; Urinary Retention

The increasing interest in healthcare and health screening events is revealing additional cases of asymptomatic isolated microscopic hematuria (IMH). However, a consensus of the evaluation and explanation of the IMH prognosis is controversial among physicians. Here, we present the natural course of IMH together with the pathological diagnosis and features to provide supportive data when approaching patients with IMH. We retrospectively evaluated 350 patients with IMH who underwent a renal biopsy between 2002 and 2011, and the pathological diagnosis and chronic histopathological features (glomerulosclerosis, interstitial fibrosis, and tubular atrophy) were reviewed. Deterioration of renal function was examined during follow up. The patients with IMH were evaluated for a mean of 86 months. IgA nephropathy was the most common diagnosis in 164 patients (46.9%). Chronic histopathological changes were observed in 166 (47.4%) but was not correlated with proteinuria or a decline in renal function. Ten patients developed proteinuria, and all of them had IgA nephropathy. Three patients progressed to chronic kidney disease with an estimated glomerular filtration rate < 60 mL/min/1.73 m2 but none progressed to end stage renal disease. In conclusion, IMH had a generally benign course during 7-years of observation, although IgA nephropathy should be monitored if it progresses to proteinuria. Future prospective randomized studies may help conclude the long-term prognosis and lead to a consensus for managing IMH.
Adolescent ; Adult ; Biopsy ; Female ; Glomerular Filtration Rate ; Glomerulonephritis, IGA/diagnosis ; Hematuria/*diagnosis/pathology ; Humans ; Kidney/*pathology/physiology ; Kidney Failure, Chronic/diagnosis ; Male ; Middle Aged ; Prognosis ; Proteinuria/diagnosis ; Retrospective Studies ; Young Adult

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types. It has a wide spectrum of clinical phenotypes, and renal failure is a serious complication. Fabry disease is confirmed either by measurement of α-galactosidase A activity or by genetic testing for GLA mutations. Renal biopsy findings on light microscopy, specifically enlarged podocytes with foamy cytoplasm, and osmiophilic inclusion bodies in the cytoplasm in all types of renal cells on electron microscopy, are characteristic of this disease. The predominant differential diagnosis is iatrogenic phospholipidosis in association with certain drugs that can cause cellular injuries indistinguishable from Fabry disease. Here, we report the case of a 10-year-old boy with microscopic hematuria who underwent a renal biopsy that showed morphological findings consistent with Fabry disease, although the patient had neither a GLA mutation nor a history of drug consumption. Six years later, spontaneous regression of this renal pathology was observed in a second renal biopsy examination.
Biopsy* ; Child* ; Cytoplasm ; Diagnosis, Differential ; Fabry Disease* ; Genetic Testing ; Glycosphingolipids ; Hematuria* ; Humans ; Inclusion Bodies ; Lysosomes ; Male* ; Microscopy ; Microscopy, Electron ; Pathology ; Phenotype ; Podocytes ; Renal Insufficiency

Poststreptococcal glomerulonephritis (PSGN) is one of the most well-known and important infectious renal diseases resulting from a prior infection with group A beta-hemolytic streptococcus. The typical clinical characteristics of the disease reflect acute onset with gross hematuria, edema, hypertension and moderate proteinuria after the antecedent streptococcal infection. In children, usually PSGN is healed spontaneously but if it combines with fast progressing glomerulonephritis, it would be developed to chronic renal failure. Therefore, it is important to make a fast diagnosis and treatment by simple tools to predict the course and the prognosis of disease. Sonography is a simple tool for diagnosis but there is no typical renal sonographic finding in PSGN, so it is difficult to predict the course and the prognosis of disease by sonographic findings. In comparison between two cases of renal sonographic findings in PSGN, a patient who showed more increased echogenicity in more extended area of renal sonography had the severe results of renal pathology, prolonged treatment period and low serum C3 level. Here, we report the different findings of renal sonography and pathology depending on the degree of severity between two patients. Thus, it is necessary to gather more information from further studies to make a consensus about the relationship between the renal sonography and the prognosis of disease in PSGN.
Child ; Consensus ; Diagnosis ; Edema ; Glomerulonephritis* ; Hematuria ; Humans ; Hypertension ; Kidney Failure, Chronic ; Pathology ; Prognosis ; Proteinuria ; Streptococcal Infections ; Streptococcus ; Ultrasonography

OBJECTIVETo analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS).

METHODFrom May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method.

RESULTOf these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS). Twenty five patients had an onset of hematuria and proteinuria and in 8 cases the disease was induced by upper respiratory tract infections. Hearing loss was present in 2 of 25 (8%) cases and ocular lesions in 1 of 25 (4%). Renal pathology showed that 16 of them had minimal change disease (MCD), 8 mesangial proliferative glomerulonephritis (MsPNG), 1 focal segmental glomerulo-sclerosis (FSGS). Extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 2 (8%) of 25 patients. Twenty one of 25 patients (84%) showed abnormal renal α-chain distribution. COL4A5, COL4A4 and COL4A3 genes of 25 patients (23 families) were analyzed and 24 pathogenic mutations were identified: 18 in COL4A5, 1 in COL4A3 and 5 in COL4A4. It was observed that 13 patients inherited the mutation from the mother, 3 patients inherited from the father, 2 patients inherited 1 mutation from the mother and another mutation from the father, and 7 patients carried the novel mutations.

CONCLUSIONXL is the main inherited type in AS. Most of patients showed MCD and MsPNG in renal biopsy. This research examined 24 mutations and 16 mutations were not reported previously.

Child ; Deafness ; Genes, Recessive ; Genotype ; Hematuria ; Humans ; Kidney ; Mutation ; Nephritis, Hereditary ; genetics ; pathology ; Pedigree ; Phenotype

OBJECTIVETo investigate the characteristics,diagnosis and therapy of post-biopsy renal artery pseudoaneurysm in children and to study the clinical value of arterial embolization for traumatic renal hemorrhage when conservative treatment failed.

METHODData were compiled from medical records of a child in whom renal artery pseudoaneurysm occurred after biopsy in the Provincial Hospital Affiliated to Shandong University , and the related literature was reviewed to analyze the diagnosis and treatment of such pseudoaneurysm.

RESULTA 13-year-old boy had gross hematuria, aggravated dysuria and decreased hemoglobin 10 days after percutaneous renal biopsy. Hb decreased from 110 g/L on the first day after admission to 92 g/L on the 4th day, 83 g/L on the 7th day and the minimum to 74 g/L at the 8th day after admission. Ultrasound showed solid echogenic mass in the right renal pelvis as well as the bladder. Color Doppler ultrasound shows the red and blue rotation of blood flow in the polar capsule under the right kidney. Contrast-enhanced CT in the arterial phase showed a 0.5 cm sized renal mass with a strongly enhanced dot in the lower pole of the right kidney, suggesting a renal artery pseudoaneurysm. Haemostatic, supplement of red blood cells and blood volume and other integrative treatment of hematuria were applied for seven days, but his gross hematuria continued to be worsened. He was diagnosed as pseudoaneurysm by digital subtraction angiography (DSA) on the 19th day after renal biopsy. Superselective renal artery embolization using micro-coils and gelatin sponge particles was performed, and the blood clots were cleaned under cystoscope. Macro-haematuria and dysuria disappeared after the interventional treatment. Retrieval of reports on post-biopsy renal artery pseudoaneurysm in children by using "pseudoaneurysm, child" as the search term showed report of one case from the Chinese CNKI database and 3 cases from the PubMed database. The underlying disease was Henoch-Schonlein purpura nephritis in 3 cases and Sneedon syndrome in 1 case; clinical manifestation of gross haematuria was present in 4 cases, lumbago or pain at the site of the puncture in 2 cases, dysuria in 1 case, and fever in 2 cases.

CONCLUSIONThe post-biopsy renal artery pseudoaneurysm in children is often manifested as gross hematuria, lumbago, pain at the site of the puncture, fever and dysuria, DSA can be used for definite diagnosis and the interventional treatment is effective.

Adolescent ; Aneurysm, False ; therapy ; Angiography, Digital Subtraction ; Biopsy ; Embolization, Therapeutic ; Hematuria ; Hemorrhage ; Humans ; Kidney ; blood supply ; pathology ; Kidney Diseases ; diagnosis ; Male ; Nephritis ; Renal Artery ; pathology

OBJECTIVETo compare the positive rates and complications of ultrasound-guided transrectal and transperineal prostate biopsies.

METHODSWe retrospectively analyzed 156 cases of ultrasound-guided transrectal (n = 97) and transperineal (n = 59) prostate biopsy, and compared the positive rate and post-biopsy complications between the two approaches.

RESULTSThe positive rates in the transrectal and transperineal groups were 48.4% and 44.1%, respectively, with no significant difference between the two approaches according to different PSA levels (P >0.05). No statistically significant differences were observed between the transrectal and transperineal groups in the post-biopsy incidence rates of such complications as hematuria (54.6% vs 42.4%, P >0.05), lower urinary tract symptoms (17.5% vs 22.0%, P >0.05), dysuria (9.3% vs 6.8%, P >0.05), and acute urinary retention (7.2% vs 6.8%, P >0.05). However, the incidence rates of post-biopsy infection and rectal bleeding were remarkably higher (15.5% vs 3.4%, P<0.05 and 50.5% vs 3.4%, P >0.01) while that of perineal swelling markedly lower in the former than in the latter (3.1% vs 13.6%, P <0.05).

CONCLUSIONTransrectal and transperineal biopsies are both effective for the diagnosis of prostate cancer. Since their complications vary, the choice between the two methods depends on the specific condition of the patient.

Biopsy, Needle ; adverse effects ; methods ; Hematuria ; etiology ; Humans ; Lower Urinary Tract Symptoms ; etiology ; Male ; Prostate ; pathology ; Prostatic Neoplasms ; pathology ; Rectum ; Retrospective Studies ; Ultrasonography, Interventional ; methods ; Urination Disorders ; etiology

OBJECTIVESTo reveal etiologies of persistent isolated hematuria (PIH) through ultrastructural pathological examination, to disclose clinicopathological correlation in cases with PIH, and to summarize appropriate management of patients with PIH.

METHODSwe retrospectively studied 155 PIH patients receiving renal biopsy between January, 2003 and December, 2008 in Peking Union Medical College Hospital. All the clinical data and follow-up result were analyzed.

RESULTSAll subjects included 38 children and 117 adults, with mean age of 11.38±3.25 years for children and 35.17±8.44 years for adults. Thin basement membrane nephropathy (TBMN) was the most common pathology (55.3% of children and 49.6% of adults), followed by IgA nephropathy (18.4% of children and 32.5% of adults, mainly grade 2-3) and mesangial proliferative glomerulonephritis (MsPGN) without IgA deposition (13.2% of children and 12.8% of adults). Besides, Alport syndrome (2.6% of children) and membrane nephropathy (2.6% of children and 0.9% of adults) were demonstrated as other causes of PIH. Elevated mean arteral pressure or protein excretion rate, as well as episodic macrohematuria, indicated higher risk for MsPGN rather than TBMN. On the other hand, severity of microhematuria was irrelevant to pathological types of PIH. Totally, 86 patients were followed up and 37 cases therein stayed on track for long term (mean duration 41.11?28.92 months, range 8-113 months). Most cases had benign clinical course except 3 cases with TBMN, 5 cases with IgA nephropathy, 1 case with MsPGN (without IgA deposition), and 1 case with Alport syndrome, who developed hypertension or proteinuria. All of them were administered timely intervention.

CONCLUSIONSClose follow-up should be required as the primary management for PIH. Equally important is careful monitoring for early identification of undesirable predictors; while renal biopsy and other timely intervention are warranted if there is hypertension, significant proteinuria or renal impairment.

Adolescent ; Adult ; Biopsy ; Child ; Female ; Hematuria ; pathology ; Humans ; Kidney ; pathology ; Male ; Middle Aged