ABSTRACT
Objective To analyze the pathologic constitution,repeated renal biopsy,treatment,prognosis and focal segmental glomerulosclerosis (FSGS) risk factors of children with steroid-resistant nephrotic syndrome (SRNS).Methods A retrospective analysis was made of 172 SRNS cases of renal biopsy in the Pediatric Nephrology Center,the First Affiliated Hospital of Sun Yat-Sen University from September 1,2006 to August 31,2016.Results The main pathological types of 172 children with SRNS were FSGS in 72 cases (41.9％),minimal change disease (MCD) in 52 cases (30.2％),and mesangial proliferative glomerulonephritis (MsPGN) in 31 cases (18.0％).There were 11 cases (6.4％) with repeated renal biopsy,5 cases of 6 children with MCD changed to FSGS;3 cases of FSGS whose repeated renal biopsy were still FSGS,but the subtype had changed;2 cases of MsPGN changed to FSGS in repeated renal biopsy.Compared to non-FSGS,the age of onset of FSGS was smaller [3.0(1.7,6.0) years old vs.5.8 (3.4,8.9) years old],the plasma albumin of FSGS was lower [18.0 (14.0,22.9) g/L vs.20.0 (15.1,29.1) g/L],the 24 hours urine protein level was higher [136.0(76.0,200.0) mg/(kg · d) vs.93.0(55.3,150.0) mg/(kg · d)],and the differences were all significant(all P ＜ 0.05).Logistic regression analysis showed that the smaller the age(P =0.007),the higher the 24-hour urine protein(P =0.028),the greater the risk of FSGS.The receiver operating characteristic (ROC) curve analysis showed that the optimal critical value of 24 hour urine protein was 131 mg/(kg · d).The effective rate of Cycloposphamide (CTX) treatment in MCD children (10/12 cases) was higher than that of FSGS (1/5 cases) and MsPGN (1/2 cases),and the differences were statistically significant (all P ＜0.05).There was no significant difference in the curative effect of Tacrolimas (TAC) and Ciclosporin A (CsA) in children with FSGS,MCD and MsPGN (all P ＞ 0.05).In 62 cases of FSGS,25 cases (56.4％) were effective,and 37 cases (84.1％) were effective in 44 cases of MCD,15 cases (60.0％) were effective in 25 cases of MsPGN,and the difference of prognosis between different pathological types was statistically significant (P ＜ 0.05).Conclusions The most common pathological types of children with SRNS are FSGS,MCD,and MsPGN,but the pathological types can be converted to each other.The smaller the age is,the higher the 24-hour urine protein level is,and the greater the risk of FSGS of the pathological type.When the quantity of 24-hours urine protein was more than 131 mg/ (kg · d),it should be alert to the possibility of pathological type of FSGS.In children with MCD,the effective rate of CTX is higher than that of children with FSGS and MsPGN.The prognosis of FSGS is the worst but the prognosis of MCD is better.
ABSTRACT
Gitelman syndrome(GS) is an autosomal recessive,salt-losing tubulopathy resulted from inactivating mutations in the SLCl2A3 gene that encodes the Thiazine diuretic sensitive sodium chloride cotransporter (NCCT).GS is characterized by hypokalemic metabolic alkalosis,hypomagnesemia and hypocalciuria.Diagnosis of GS is relied on the clinical symptoms,biochemical abnormalities and genetic test.All GS patients are suggested to keep high-sodium diet.Magnesium and potassium supplements are usually given to GS patients for lifelong to improve clinical symptoms.Individual management of GS includes health education,complication evaluation and regular follow-up with annual evaluation by a nephrologist.Cystinosis is a rare autosomal-recessive lysosomal storage disease caused by inactivating mutations in the CTNS gene that encodes the lysosomal cystine transporter,cystinosin,resulting in the accumulation of cystine within the lysosome.There are 3 clinical forms of cystinosis:infantile or early-onset nephropathic cystinosis,juvenile or late-onset nephropathic cystinosis and adult or ocular cystinosis.Diagnosis of cystinosis is based on the CTNS genetic test.Early diagnosis and early cystine-depleting therapy with cysteamine is essential to prevent or attenuate end-organ damage and improve overall prognosis.
ABSTRACT
Objective To analyze the podocyte gene mutation in children with steroid -resistant nephrotic syndrome (SRNS),and to explore the clinical manifestations and prognosis of children with gene mutation,so as to pro-vide a theoretical basis for the diagnosis and treatment of SRNS gene mutation in children. Methods Twenty-four pa-tients with SRNS diagnosis and ages less than 14 years old were selected from the Pediatric Nephrology Center of First Affiliated Hospital of Sun Yat-Sen University during August 31,2014 to September 1,2016. The gene detection was performed through PCR amplification and second DNA general sequencing,in which the target genes were detected in 23 cases with nephrotic panel,and 1 case was sequenced with the exon gene. Results There were 14 cases of male and 10 cases of female in 24 cases of genetic testing. The median age of onset was 4. 7 years old. There were 9 cases of sim-ple type,15 cases of nephritis type. And all the cases were primary steroid-resistant. Within the 20 cases of renal biop-sy,there were 5 cases of minimal change disease (MCD),11 cases of focal segmental glomerulosclerosis(FSGS),and 4 cases of mesangial proliferative glomerulonephritis (MsPGN). In the 24 cases,there were 8 cases of gene mutation. Their age was (3. 97 ± 3. 61)years old. The ratio of male and female was 1. 67:1. 00. The main clinical classification was nephritis type (6/8 cases). The major genes were NPHS2(3 cases),NPHS1(2 cases),INF2(2 cases),MYO1E(1 case). And FSGS was the main pathological type (4 cases). Most of them were no remission or end stage renal disease (ESRD)(6/8 cases),including 2 cases of renal transplantation. The 24 hour urine protein level in the gene mutation group was significantly higher than that in the non-mutation group [195. 4 (166. 0,262. 4)mg/(kg·d)vs. 85. 4 (74. 5,101. 3 ) mg/(kg·d )],and the difference was statistically significant (Z ＝ -3. 674,P ＜ 0. 001 ). Conclusion The main mutation genes of children with SRNS were NPHS2,NPHS1 and so on. FSGS was the main pathological type. Most of them were no remission or ESRD. The higher of the 24 hour urine protein level,the more pos-sibility of genetic mutation.
ABSTRACT
ObjectivesTo investigate the composition of clinical classiifcation and pathological patterns and their rela-tionships and change in children with renal disease undergoing biopsy.MethodsA retrospective analysis of pathological and clinical data obtained from children (≤14 year) with renal disease undergoing biopsy from 1984-1997 and from 1998-2011 was performed.ResultsOne thousand four hundred and sixty-two children underwent renal biopsy in 28 years, and 1313 patients were recruited in this study, 824 males (62.8%) and 489 females (37.2%). The mean age was 9 years and 4 months at renal biopsy. There were 921 children (70.1%) with primary glomerular disease (PGD) and 312 children (23.8%) with secondary glomerular disease (SDG). The main clinical classiifcations of PGD were nephrotic syndrome (NS, 31.2%), isolated hematuria (IH, 16.1%), and acute glomerulonephritis (AGN, 11.0%). The main pathological patterns of PGD were IgA nephrop-athy (IgAN, 27.6%), minimal change disease (MCD, 24.0%), and mesangial proliferative glomerulonephritis (MsPGN, 16.9%). The main causes of SGD were lupus nephritis (LN, 40.7%), Henoch-Sch?nlein purpura nephritis (HSPN, 34.3%), and hepatitis B virus related glomerulonephritis (HBV-GN, 19.6%). In this 28 years, the composition of PGD was decreased, however, the compositions of SGD and other renal diseases were increased. Compared with 1984-1997, the pathological manifestations of IgAN, MCD and focal segmental glomeralosclerosis were increased, MsPGN, IgMN, and crescentic glomerulonephritis were decreased in 1998-2011. The difference was statistically significant (P<0.05). In SGD patients, HBV-GN was significantly decreased (P<0.05).ConclusionsPGD is the main disease in children undergoing renal biopsy. IgAN is the most common pathological pattern. NS is the most common clinical classiifcation. In this 28 years, the composition of PGD is decreased, SGD and other renal diseases are increased in children undergoing renal biopsy.