Objective: To investigate risk factors for the long-term prognosis of primary focal segmental glomerulosclerosis (FSGS) and associated with renal prognosis in children. Methods: A retrospective study was conducted by collecting clinical data including general information, clinical features and renal pathological findings of 124 children with primary FSGS in Department of Pediatrics of Jinling Hospital from January 2003 to December 2019. The cumulative renal survival rate was calculated by Kaplan-Meier survival analysis. The risk factors related to renal prognosis were identified by Cox regression risk model analysis and receiver operating characteristic (ROC) curve. Results: Among 124 children, 94 were males (75.8%) and 30 were females (24.2%). The children were 16 (14, 17) years of age at the time of kidney biopsies. There were 102 cases (82.3%) aged from 13 to 18 years. The period of follow-up was 64.8 (32.1, 86.0) months. There were 49 cases (39.5%) with nonspecific variant, 33 cases (26.6%) with tip variant, 22 cases (17.7%) with collapsing variant, 14 cases (11.3%) with cellular variant and 6 cases (4.8%) with periportal variant. The data of Kaplan-Meier survival analysis showed that cumulative renal survival rates of end-stage kidney disease (ESKD) or ≥50% decline in estimated glomerular filtration rate (eGFR) from baseline at the year of 5, 10 and 15 after renal biopsies were 66.9%, 51.4% and 21.0% respectively. Multivariate Cox regression analysis showed that hypertension, glomerular segmental sclerosis ratio, moderate to severe chronic tubulointerstitial lesions were independent risk factors for progressing to ESKD or ≥50% reduction in eGFR from baseline in pediatric FSGS (HR=5.28, 1.03, 7.81, 95%CI 2.77-10.05, 1.01-1.04, 4.08-14.98, all P<0.01). ROC curve analysis showed glomerular segmental sclerosis ratio (AUC=0.734, P<0.05, optimal cut-off value=25.4%, sensitivity=50.0%, specificity=88.6%), moderate and severe chronic renal tubulointerstitial lesions (AUC=0.724, P<0.05, sensitivity=46.3%, specificity=98.6%) had good efficacy in evaluating renal outcomes of FSGS. Conclusions: The long-term prognosis of FSGS in children is poor. The risk factors of poor prognosis in children with FSGS are hypertension, moderate to severe chronic renal tubulointerstitial lesions and glomerular segmental sclerosis (≥25.4%).
Adolescent ; Child ; Female ; Glomerulosclerosis, Focal Segmental/complications* ; Humans ; Hypertension ; Kidney Failure, Chronic/etiology* ; Male ; Prognosis ; Retrospective Studies ; Sclerosis

OBJECTIVE: To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy. METHODS: Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband. RESULTS: The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c.341G>A (p.G114D) mutation in exon 2 of the INF2 gene. CONCLUSION The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.
Charcot-Marie-Tooth Disease ; complications ; genetics ; Child ; Female ; Glomerulosclerosis, Focal Segmental ; complications ; genetics ; Heterozygote ; Humans ; Male ; Microfilament Proteins ; genetics ; Mutation ; Pedigree

OBJECTIVETo investigate the significance of serum cholesterol and fibrinogen (Fib) in evaluating the risk of glomerulosclerosis in children with nephrotic syndrome.

METHODSSixty-three children with primary nephrotic syndrome were divided into two groups according to their pathological types: minimal change glomerulopathy (MCG) (n=39) and focal segmental glomerulosclerosis (FSGS) groups (n=24). Serum levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), non-HDL-C and Fib and 24-hour urinary protein excretion were retrospectively analyzed.

RESULTSSerum levels of TC, non-HDL-C, and LDL-C were significantly higher in the FSGS group than in the MCG group (P<0.05), but there were no significant differences in HDL-C, Fib and 24-hour urinary protein excretion between the two groups (P>0.05). According to the results of logistic regression analysis, high levels of LDL-C, non-HDL-C and TC were risk factors for FSGS (P<0.05). In patients whose proteinuria did not disappear after taking enough glucocorticoid for 4 weeks, the level of non-HDL-C was significantly higher in the FSGS group than in the MCG group (P<0.05); there were no significant differences in TC, LDL-C, HDL-C, and Fib between the MCG and FSGS groups (P>0.05).

CONCLUSIONSSerum cholesterol, especially non-LDL-C, is of great significance in evaluating the risk of glomerulosclerosis in children with nephrotic syndrome. There is no sufficient evidence to support serum Fib as a marker for predicting glomerulosclerosis in these children.

Child ; Child, Preschool ; Cholesterol ; blood ; Female ; Fibrinogen ; analysis ; Glomerulosclerosis, Focal Segmental ; etiology ; Humans ; Logistic Models ; Male ; Nephrosis, Lipoid ; etiology ; Nephrotic Syndrome ; blood ; complications ; Retrospective Studies ; Risk

Churg-Strauss syndrome (CSS), or allergic granulomatosis, is a rare disease manifested by tissue infiltration, hypereosinophilia and vasculitis. Renal involvement may be seen in up to 50% of cases. We report the case of a 25-year old man who presented with a history of fever for two months, tingling, numbness, and paraesthesia of the upper limbs and left lower limb, along with diarrhoea for one month and an inability to walk for the past seven days. Serial laboratory investigations helped to reach the final diagnosis of CSS with mononeuritis multiplex, and skin, pulmonary and gastrointestinal involvement with hypertension. This is due to renal involvement in the form of focal segmental glomerulosclerosis without any nephrotic range proteinuria, which is a very rare clinical entity. The patient's symptoms were relieved after the administration of an unconventional mode of therapy.
Adult ; Biopsy ; Churg-Strauss Syndrome ; complications ; diagnosis ; Fever ; Glomerulosclerosis, Focal Segmental ; complications ; diagnosis ; Humans ; Kidney ; pathology ; Kidney Diseases ; complications ; Male ; Proteinuria ; diagnosis ; Radiography, Thoracic ; Skin ; pathology ; Treatment Outcome

PURPOSE: Renal transplantation is considered the treatment of choice for children with end-stage renal disease (ESRD). The results of renal transplantation were retrospectively analyzed to assess certain aspects of pediatric renal transplantation. MATERIALS AND METHODS: Between January 1989 and January 2005, 27 pediatric kidney transplantations were carried out at our center. Fifteen (55.5%) patients underwent hemodialysis, two (7.4%) peritoneal dialysis and ten (37.0%) were conservative managed prior to treatment. Living- related donors provided 25 (92.6%) of the transplanted organs, with cadaver sources utilized for 2 (7.4%) patients. The donor age, organ source, etiology of ESRD, hospitalization period, postoperative complications, occurrence and number of acute rejections, and graft survival were assessed. RESULTS: The causes of renal failure were chronic glomerulonephritis in 10 patients [IgA 3 nephropathy, 3 membranoproliferative glomerulonephritis (MPGN), 2 nephrotic syndrome and 2 focal segmental glomerulosclerosis (FSGS)], urinary tract anomalies in 6 (4 reflux nephropathy and 2 polycystic kidney), Alport syndrome in 1, hypertensive nephropathy in 2, systemic immunological disease in 1 and unknown causes in a further 5. Acute rejection occurred in 12 patients, all of who recovered after steroid pulse therapy. Growth and development failed in 2 patients. The postoperative complications included 4 urinary tract infections, 3 retroperitoneal hematomas, 2 lymphoceles and 1 acute ureteral obstruction. Four patients expired due to post-operative complications, such as disseminated intravascular coagulation (DIC), intracranial hematoma, sepsis and renal failure. CONCLUSIONS: Pediatric renal transplantation can be successful, even in young children with ESRD.
Cadaver ; Child ; Disseminated Intravascular Coagulation ; Glomerulonephritis ; Glomerulonephritis, Membranoproliferative ; Glomerulosclerosis, Focal Segmental ; Graft Survival ; Growth and Development ; Hematoma ; Hospitalization ; Humans ; Immune System Diseases ; Kidney Failure, Chronic ; Kidney Transplantation* ; Lymphocele ; Nephritis, Hereditary ; Nephrotic Syndrome ; Peritoneal Dialysis ; Postoperative Complications ; Postoperative Period ; Renal Dialysis ; Renal Insufficiency ; Retrospective Studies ; Sepsis ; Tissue Donors ; Ureteral Obstruction ; Urinary Tract ; Urinary Tract Infections

OBJECTIVEIdiopathic collapsing glomerulopathy (ICG) is a clinically and pathologically distinct variant of focal segmental glomerulosclerosis, which is characterized by proteinuria (often nephrotic range) and rapid progression to end-stage renal failure. The typical pathological changes are global/segmental glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. Most ICG patients who have been reported in previous published papers are adults. ICG in children is rare. The study aimed to analyze and investigate clinical manifestations, renal histopathological findings, treatment and outcomes of ICG in children.

METHODSData of two cases of ICG, a 7-year-old boy and a 12-year-old girl, were analyzed. Both of them were Chinese and Han. Clinical characteristics, results of laboratory tests, renal histopathological findings, treatment, outcomes and prognosis of the two children with ICG were retrospectively analyzed. Results were compared with published data.

RESULTSThese two children presented typical clinical features of nephrotic syndrome. The quantity of 24 hr urine protein was 7.6 g/d (0.47 g/kg x d for boy) and 10.67 g/d (0.35 g/kg x d for girl). Both of them had hypertension (blood pressure ranged from 130/90 to 150/110 mmHg) and hypercholesterolemia (15.4 mmol/L for the boy and 11.3 mmol/L for the girl). The serum albumin was 12 g/L for girl and 23 g/L for boy. The creatinine clearance rate gradually decreased from normal range to 30 ml/min for the girl. The histopathological changes in renal biopsy of them were focal segmental or global glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. These two cases were steroid-resistant and were treated with pulse intravenous methylprednisolone and pulse intravenous cyclphosphamade in one case, who rapidly progressed to end-stage renal failure and died half a year later. Another one was treated with cyclosporine. He showed continuous hypertention and heavy proteinuria for eight months.

CONCLUSIONICG in the 2 children was a severe disease which presented steroid-resistant nephrotic syndrome and rapidly progressive renal failure. The pathological characteristics was global/segmental glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. In children with ICG treatment was difficult and the prognosis was poor.

Child ; Disease Progression ; Female ; Glomerulosclerosis, Focal Segmental ; complications ; diagnosis ; pathology ; therapy ; Glucosinolates ; Humans ; Kidney ; pathology ; Kidney Failure, Chronic ; etiology ; Kidney Glomerulus ; pathology ; Male ; Nephrotic Syndrome ; etiology ; Proteinuria ; etiology ; Treatment Outcome

OBJECTIVETo investigate the clinical and pathological characteristics of focal segmental glomerulosclerosis (FSGS) in children.

METHODSThe data of 38 children,aged from one and half to 15 years, 25 boys and 13 girls, with primary FSGS were studied retrospectively.

RESULTSMajority of the cases in this study were school-aged children. The average age of initial onset was 8.9 +/- 3.68 years. The ratio of boys to girls was 1.92. The clinical manifestation included isolated proteinuria in 3 cases, proteinuria and hematuria in 1 and nephrotic syndrome in 34 (simple type in 16 and nephritic type in 18). Of 38 cases, 24 (63%) presented with hematuria, 11 (29%) with hypertension and 7 (18%) with decreased creatinine clearance. The pathologic classification included perihilar variant in 17 cases, peripheral variant in 14 and tip variant in 7. The predominant clinical feature of children with tip variant was simple type of nephrotic syndrome (86%). Microscopic hematuria was not common (29%). Blood pressure and renal function were normal. The children with diffuse mesangial hypercellularity superimposed on changes of FSGS (in 21 of 38 cases) were more likely to have hematuria (76%) and less simple nephrotic syndrome (30%). The initial treatment response to prednisone in 34 cases with nephrotic syndrome showed sensitive in 12 cases, resistant in 21 and unknown in 1. Transition from sensitive to resistant occurred in six of 12 children. Three of 4 cases with non-nephrotic syndrome showed no response and the remaining one had unknown response. It was found that 44% of children who received cyclophosphamide and 83% of children who received pulse methylprednisolone and pulse cyclophosphamide or cyclosporin A in addition to oral steroids had complete or partial remission. Correlation analysis showed that the level of proteinuria after treatment was correlated directly with renal tubulointerstitial lesion and renal function (Pr = 0.48, P < 0.05; Pr = 0.45, P < 0.05).

CONCLUSIONFSGS was common in school-aged children. The predominant presenting feature was nephrotic syndrome. Hematuria was common. Hypertension and renal insufficiency were less frequently seen. The renal biopsy showed multiple variants. Pulse methylprednisolone and pulse cyclophosphamide or cyclosporin A treatments showed relatively good response.

Adolescent ; Child ; Child, Preschool ; Creatinine ; blood ; Female ; Glomerulosclerosis, Focal Segmental ; complications ; drug therapy ; pathology ; Glucocorticoids ; therapeutic use ; Hematuria ; etiology ; Humans ; Hypertension ; etiology ; Infant ; Male ; Methylprednisolone ; therapeutic use ; Prognosis ; Proteinuria ; etiology ; Retrospective Studies ; Treatment Outcome

We studied retrospectively 17 patients(<19 years old), who received living-donor renal transplantation between Nov. 1982 and May. 1994. Recipients were composed of 10 males and 7 females, with mean age of 16.5 years old(range: 7-19). The causes of renal failure were chronic glomerulonephritis in 6 patients(2 focal segmental glomerulosclerosis, 2 IgA nephropathy, 1 membranoproliferative glomerulonephritis, 1 nephrotic syndrome), urinary tract anomalies in 2 patients(vesicoureteral reflux and anterior urethral valve in each) and unknown cause in 9 patients. The incidence of urologic anomalies in children was more frequent than adult. Immunosuppression after transplantation was with cyclosporine-A and prednisolone in all patients. Acute rejection occurred in 4 patients, who were recovered after steroid pulse therapy. One patient lost the graft because of chronic rejection. Postoperative complications were 2 perirenal hematoma, 2 bacterial urinary tract infection, 2 avascular necrosis of hip joint, 1 cytomegalovirus(CMV') pneumonia, 1 miliary tuberculosis, and 1 hirsuitism. There were 2 deaths, and the causes of death were CMV pneumonia and pulmonary edema. The results of renal transplantation in children were not satisfactory in comparison to those achieved in adults. Although successful renal transplantation in children with end stage renal disease appears to permit the maximal opportunity for growth and development, some problems such as dosage of immunosuppressants, fluid and electrolyte balance, nutritional support remain a persistent obstacle to long term survival. So more research to these problems will be necessary to improve of graft salvage and survival in children.
Adult ; Cause of Death ; Child* ; Female ; Glomerulonephritis ; Glomerulonephritis, IGA ; Glomerulonephritis, Membranoproliferative ; Glomerulosclerosis, Focal Segmental ; Growth and Development ; Hematoma ; Hip Joint ; Humans ; Immunosuppression ; Immunosuppressive Agents ; Incidence ; Kidney Failure, Chronic ; Kidney Transplantation* ; Male ; Necrosis ; Nutritional Support ; Pneumonia ; Postoperative Complications ; Prednisolone ; Pulmonary Edema ; Renal Insufficiency ; Retrospective Studies ; Transplants ; Tuberculosis, Miliary ; Urinary Tract ; Urinary Tract Infections ; Water-Electrolyte Balance