[Clinical and pathological study of 47 cases with Alport syndrome].

OBJECTIVE: To analyze the clinical and pathological features of children with Alport syndrome (AS). METHODS: A series of 47 patients with AS from unrelated families hospitalized from Jan. 1990 to Jan. 2007 were involved in this study. The clinical and histopathological data were collected and analyzed. RESULTS: Of the 47 cases, 32 were male and 15 female, M/F: 2.1:1. The patient's age ranged from 15 months to 13 years, mean 9 years. Thirty-nine of the 47 cases had positive family history, X-linked dominant inheritance AS was diagnosed in 37 cases, autosomal recessive inheritance AS in 2 cases. Gross hematuria or microscopic hematuria were found in 59.3% of the cases as the first manifestations, while 29.8% showed edema or proteinuria. The major clinical manifestations were isolated hematuria (23.4%), hematuria and proteinuria (36.2%), nephrotic syndrome (29.8%), and renal failure (10.6%). Hematuria and proteinuria existed in all the cases, while only 7 to 13 years children had nephrotic syndrome and renal failure. Of the 47 patients, 33 (70.2%) showed mesangial proliferative glomerulonephritis (MsPGN) under the light microscope, 13 (27.6%) focal segmental glomerulosclerosis (FSGS), 1 (2.1%) membrane proliferative glomerulonephritis (MPGN). For immunofluorescence, there was IgM (40.4%) as the dominant deposition in 19 patients, IgA in 9 (19.1%), IgG in 9 (19.1%), and 10 (21.4%) were negative. Thirty-nine cases showed typical glomerular basement membrane (GBM) pathological changes under electron microscope, while thin basement membrane in 8 cases; 46 showed abnormal skin and/or renal alpha-chain distribution. CONCLUSION: For Alport syndrome, number of male patients was higher than that of female patients. There was a significant difference among different age groups. Hematuria might be present throughout the course, while urine protein increases gradually. MsPGN was the dominant pathological change. The GBM pathological changes in younger children is not typical, so the immunofluorescence test of alpha-chain in collagen IV should be used as an important diagnostic method.

[Cyclosporin A treatment of 83 children with nephrotic syndrome of different pathological types].

OBJECTIVE: To evaluate the efficacy of cyclosporin A (CyA) therapy in 83 children with nephrotic syndrome of different pathological types. METHODS: Eighty-three children enrolled in this study were all hospitalized children with idiopathic nephrotic syndrome, aged 3 to 14 yrs (average 8.3 yrs) and included 52 males and 31 females. There were 35 cases with steroid-dependent, 17 with steroid resistant and 26 with frequent relapses. CyA was given to each patient with dosage of 5 mg/(kg.d) during the corticosteroid was diminished. The renwal biopsy was performed in all patients before the administration of CyA. The duration of CyA therapy lasted for about 3 to 6 months. The plasma concentration of CyA was monitored. RESULTS: Eighty-three children with nephrotic syndrome of different pathological types were treated with CyA, including 42 cases of minimal change nephrotic syndrome (MCNS), 31 cases of mesangioproliferative glomerulonephritis (MsPGN), 5 cases of membranoproliferative glomerulonephritis (MPGN) and 4 cases of focal segmental glomerular sclerosis (FSGS). All the 83 patients tolerated well to the CyA treatment. Forty-five cases got complete remission, 23 partial remission, 15 cases no change after one month treatment with CyA in the hospital. The overall response rate was 82%. Patients with different renal pathological types showed different responses. Among them, MCNS and MsPGN exhibited the best response rates of 86% and 84%, respectively; MPGN cases showed a lower response rate and FSGS cases showed the lowest rate. The response time was 7 to 45 days. The blood concentration of CyA was monitored for 1 week and 2 weeks after the drug was given. The effective drug concentration was maintained at 100 to 200 microg/L, and the course lasted for 3 to 6 months. During the follow-up of 83 cases, in 17 of 68 cases the disease relapsed when therapy was tapered or discontinued. The relapse rate was 25%. The results indicated that CyA would be effective to the relapsed cases. The serum creatinine increased temporarily after administration of CyA in 5 cases, N-acetyl-beta-D-glucosaminidase (NAG) in 8 cases and eventually reached the normal range after the adjustment of dosage. The side effects included anorexia, nausea, vomiting and so on. CONCLUSION: CyA is one of the effective substitutes for the treatment of nephrotic syndrome, especially for the cases with MCNS and MsPGN. And CyA could control refractory nephrotic syndrome effectively and rapidly. The clinical effect was related to the blood concentration of CyA and pathological types.