Objective To analyze the diagnostic approach on hepatolenticular degeneration combined with thin basement membrane nephropathy.Methods A girl presented with microscopic hematuria, liver dysfunction and hypocomplementemia was diagnosed with hepatolenticular degeneration combined with thin basement membrane nephropathy, her clinical data were summarized and analyzed retrospectively.Results A ten years old girl presented with microscopic hematuria and liver dysfunction for a year, dysarthria for a month, and combined with hypocomplementemia but without proteinuria. Renal biopsy showed thin basement membrane nephropathy. Ceruloplasmin was 23.10 mg/L and urinary copper concentration was 120μg, respectively, ocular slit lamp examination showed Kayser-Fleischer ring, cranial MRI showed preternatural signal in both basal and putamen nucleus, mutation analysis showed homozygous mutations in ATP7B and heterozygous mutation in COL4A3 gene,respectively.Conclussion Hepatolenticular degeneration should be suspected in those cases with persistence microscopic hematuria, liver dysfunction and hypocomplementemia.

Objective To explore the clinical features of steroid resistant nephrotic syndrome caused by NPHS2 gene mutation. Methods The clinical data of two pediatric patients with steroid resistant nephrotic syndrome were retrospectively analyzed. The pertinent literatures were reviewed. Results Both patients were male with onset age at 2 and 3 years old. The clinical features were heavy proteinuria, hypoalbuminemia, and hypercholesterolemia, which met the diagnostic criteria of nephrotic syndrome. Renal pathology found one patient with focal segmental glomerulosclerosis, and other with minimal-change. Both of them suffered from recurrent inguinal hernioplasty and one was accompanied with hypoplasia of left testis. Gene detection verified a NPHS2 gene mutation. Both of them were hormone resistant at the beginning of onset and later hormone combined with different kinds of immunosuppressive therapy was still ineffective. Both of them entered the end-stage of renal disease 3 years after onset. Conclusions For male pediatric patients with steroid resistant nephrotic syndrome, combined with non-renal manifestations such as multiple hernia or testicular abnormalities, the possibility of the hereditary nephrotic syndrome caused by NPHS2 mutations should be considered.

Objective To explore the diagnosis and differential diagnosis of IgA nephropathy.Methods The clinical data of 2 children with IgA nephropathy were retrospectively analyzed.The pertinent literatures were reviewed.Results In 2 males aged 6 and 7 years,the clinical features were a large amount of proteinuria (mainly albumin),low serum albumin,high cholesterol,and persistent microscopic hematuria,which were in line with the diagnosis of nephrotic syndrome.The effects of hormone and immunosuppressive therapy were poor.Renal pathology immunofluorescence and light microscopy findings were in accord with mild to moderate mesangial proliferative IgA nephropathy (M1E0S0T0).Electron microscope showed glomerular basement membrane lesions (layering,breakage,and uneven thickness),which could not exclude Alport syndrome.Further gene detection confirmed a pathogenic mutation of COL4A5.Conclusions It is rare that IgA nephropathy is combined IgA nephropathy at the same time.Attention should by paid to those who had a poor effect of treatment or had a related family history in IgA patients because it is possible that IgA nephropathy and IgA nephropathy may occurred at the same time.

Objectives To explore the effects of gross hematuria on the results of several parmeters in laboratory urine examination. Methods Eighty (80) children with IgA nephropathy and 40 cases with acute post-streptococcal glomerulonephritis hospitalized in our hospital from January 2014 to December 2015 were recruited. The ratio of urinary calcium and protein to creatinine, quantitative test of 24 h urinary calcium and protein, quantitative test of 24 h urinary albumin,α1-microglobulinuria, microalbuminuria and urine protein electrophoresis were tested during and after the gross hematuria, respectively. Results The ratio of urinary calcium and protein to creatinine, quantitative test of 24 h urinary calcium and protein were much higher in the duration of gross hematuria as compared to those after the duration of gross hematuria, while α1-microglobulinuria, microalbuminuria and quantitative test of 24 h urinary albumin showed no difference between the two periods. Conclusions Gross hematuria could increase the level of urinary calcium and protein, while quantitative test of 24 h urinary albremin is not affected.

Objective To explore the rare cause of renal failure in childhood IgA nephropathy.MethodsA six year-old boy presented with recurrent gross hematuria for 3 months and increased serum creatinine for 5 days, blood and urine routine test, renal function, urinary protein concentration and renal biopsy were performed for diagnosis.Results The boy had three episodes of recurrent gross hematuria with a predisposed respiratory tract infection, he recovered within a week after antibiotic therapy from previous two episodes, but oliguria and renal failure were occurred in the third episode. Renal biopsy showed IgA nephropathy with presence of red blood cell casts in as much as 50% of the tubular lumen and acute tubular lesion. His renal function recovered gradually to normal within 4 weeks after treatment with anti-infection, diuresis and alkalization of urine. Conclusions This article reported the renal failure case induced by tubular damage and obstruction by red blood cell casts in childhood IgA nephropathy.

Objective To explore the diagnosis of primary bladder telangiectasia. Methods The clinical data of a child with primary bladder telangiectasia were reviewed. Results A 9-year-old girl had gross hematuria without obvious cause at 3 years old. After that she presented intermittent gross hematuria and persistent microscopic hematuria with blood clots in the urine following repeatedly respiratory tract infections, and had hemorrhagic shock once. Urine routine examination showed albumin 1+~2+ and RBC full in entire field of view. 24 hours urine protein quantitation was 0.96 g. Ultrasound of abdomen and urinary tract and enhanced CT of urinary system had no abnormal findings. Renal artery angiography showed no arteriovenous malformation or fistula. Cystoscopy showed telangiectasia. There was neither family history nor telangiectasia in other parts. Both genetic telangiectasia and ataxia telangiectasia gene mutation analysis were normal. Conclusion It is rarely seen primary bladder telangiectasia in children. However, children with early onset, long-term, and intermittent gross hematuria with blood clots, especially suffered with hemorrhagic shock, vascular disease should firstly be considered. And routine urinary imaging should be performed, including angiography and ,if necessary, cystoscopy.

Objective To explore the clinical features, diagnosis, and treatment of childhood fibrillary glomerulonephritis (FGN). Methods The clinical data of a child with FGN in April 2016 were analyzed retrospectively. Results A 12-year-old boy, who presented significant proteinuria (mainly albumin), hypoalbuminemia, hypercholesterolemia, and persistent microscopic hematuria in May 2010, met the criteria of nephrotic syndrome. Renal biopsy in May 2010 showed mesangial proliferative glomerulonephritis combined with glomerulosclerosis. It was not effective by treatment with intravenous infusion of methylprednisolone and prednisolone, and there were no responses by the combination with mycophenolate mofetil and traditional Chinese medicine. After admission, the second renal biopsy was performed. Under the light microscope, the moderate mesangial proliferative glomerulonephritis combined with membranoproliferative changes was observed. Under the electron microscope, the FGN was confirmed. Conclusion The first case of childhood FNG was diagnosed in China.

Objectives To investigate the clinical effect of hemoperfusion in severe juvenile dermatomyositis. Meth-ods Two patients with severe juvenile dermatomyositis, who accepted hemoperfusion treatment, were retrospectively analyzed. Results In these 2 patients, the hemoperfusion process were smooth. The muscle pain was reduced and the muscle enzymes were decreased. After hemoperfusion, one patient refused to continue treatment and the disease recurrent. The other patient con-tinued to accept the immunosuppressive therapy and eventually improved. Conclusions For juvenile dermatomyositis, hemo-perfusion was a safe and effective auxiliary treatment. It could be applied when the general treatment was invalid.