Objective To explore the diagnosis and treatment of Dent disease I. Method The clinical data of 4 children with Dent diseaseⅠand the direct sequencing results of Dent disease-related genes CLCN5, OCRL1 exons and nearby regulatory regions were retrospectively analyzed. Results All the four children were male, the age at onset was 1.5～4 years and the age at diagnosis was 3～10 years. All of them had the clinical manifestations of proteinuria, among which 2 cases were accompanied by rickets symptoms. Gene detection showed that all of them had CLCN5 mutations, L263F, R104X, S244L and exon 9-13 deletion respectively. S244L is the most common mutation in patients with Dent disease I, and the rest are newly discovered mutation sites. Conclusion Dent disease I is mainly manifested as low molecular weight proteinuria and hypercalciuria. Gene detection contributes to the early and clear diagnosis.

Objective:To investigate the clinical manifestations, auxiliary examination results, prognosis and treatment of children with typical hemolytic uremic syndrome (D + HUS). Methods:The clinical data of 36 patients diagnosed as D + HUS in the Department of Pediatrics of Nanjing Jinling Hospital from January 2001 to January 2019 were collected, and the laboratory results including blood routine, liver and kidney function, coagulation function, humoral immunity and urine were compared before and after treatment. Results:The white blood cell count[ (9.28±6.77)×10 9/L vs.(11.20±5.93) ×10 9/ L ], C-reactive protein [7.15(3.34, 29.33) mg/L vs.31.83(25.03, 39.75) mg/L], reticulocyte count [(112.49±76.25)×10 9/L vs. (206.49±147.99)×10 9/L], erythrocyte sedimentation[15.02(11.79, 22.83) mm/1 h vs.28.06(24.13, 40.52) mm/1 h] , aspartate aminotransferase[50.04(41.92, 60.11) U/L vs.62.61(54.58, 83.52) U/L], alanine aminotransferase [16.72(11.80, 24.74) U/L vs.24.54(20.30, 34.36) U/L], uric acid [(532.84±309.06) μmol/L vs.(606.64±327.23) μmol/L], serum creatinine[160.07(124.87, 221.18) μmol/L vs.200.56(160.62, 283.01)μmol/L ], blood urea nitrogen [20.74(15.77, 28.40) mmol/L vs.33.67(25.91, 45.84) mmol/L], lactate dehydrogenase [488.21(337.59, 692.82) U/L vs.1 520.68(734.24, 2 272.10) U/L ], prothrombin time [(12.14±5.89) s vs. (17.91±6.12) s ], activated partial thrombin time [(25.05±6.26) s vs.(32.38±5.49) s], fibrinogen [ (3.79±2.17) g/L vs.(5.17±3.88) g/L], D-dimer [0.92(0.30, 1.13) mg/L vs. 1.27(1.01, 1.90) mg/L ], 24-hour urinary proteinuria [ (84.05±44.19) mg/(kg·24 h) vs.(112.18±78.26) mg/(kg·24 h) ], urinary sediment [175.73(79.72, 258.66)×10 7/L vs. 160.38(118.68, 361.83)×10 7/L], N-acetyl-β-D-glucosaminidase [25.10(18.84, 33.02) U/(g·cr) vs. 41.57(29.49, 58.61) U/(g·cr)], urinary retinol binding protein [0.35(0.18, 1.33) mg/L vs 1.05(0.66, 1.68) mg/L.] in patients after treatment were significantly lower than those before treatment, and the differences were all statistically significant(all P<0.05); patients had higher levels of red blood cell count [ (4.51±1.73)×10 9/L vs.(2.43±1.40) ×10 9/L], platelet[(126.82±78.35)×10 9/L vs. (85.21±69.38)×10 9/L], hemoglobin[(118.46±18.27) g/L vs. (62.36±16.11) g/L], and complement C 3levels [(0.74±0.39) g/L vs.(0.58±0.27) g/L ] after treatment, and the differences were all all statistically significant(all P<0.05). Children with D + HUS showed multiple system injuries.Among 36 cases, 17 cases (47.22%) had fever, 31 cases (86.11%) had abdominal pain and diarrhea, 29 cases (80.56%) had nausea and vomiting, 8 cases (22.22%) had headache and dizziness, 36 cases (100.00%) had proteinuria and hematuria, 34 cases (94.44%) had renal insufficiency, and 21 cases (58.33%) had yellow staining of skin and sclera.The auxiliary examination for abnormal results mainly included renal pathology (100.00%) (mesangial proliferation endothelial cell proliferation and swelling, and shedding of renal tubular brush borders), bone marrow pathology (100.00%) (active bone marrow hyperplasia), and renal B-ultrasound (86.67 %) (kidney injury-like sound image). Conclusions:D + HUS in children shows multiple system damage.Digestive system abnormalities are the main causative factor of D + HUS in children, and the disease is dangerous.Therefore, early diagnosis and active treatment can improve the prognosis.