Dent病合并肾衰竭2例报告并文献复习
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摘要
目的探讨儿童Dent病合并肾衰竭的病因及预后。方法分析2014年1月至2016年12月收治的2例Dent病合并肾衰竭患儿的临床资料,并结合文献进行复习。结果 2例患儿均为男性,年龄分别为8、10岁;既往肾功能均正常,无肾脏钙化;肾衰竭发病前1周内均有上呼吸道病毒感染史。例1疾病急性期(10天)肾活检提示合并急性小管间质性肾炎,经激素治疗后肾功能完全恢复;例2病程6个月时肾活检提示合并亚急性小管间质性肾炎,经激素治疗后肾功能稍有改善但未恢复正常。结论对于Dent病患儿发生急性肾衰竭,特别是有上呼吸道病毒感染等诱因者,应及早行肾活检,以除外合并急性间质性肾炎的可能,从而及时治疗、改善预后。
Objective To explore the etiology and prognosis of Dent disease combined with renal failure in children. Methods The clinical data of 2 children with Dent disease combined with renal failure from January 2014 to December 2016 were analyzed and the related literature was reviewed. Results Both of them were male, with the age of 8 and 10 years old respectively. Their renal functions were normal, and no renal calcification. Both of them had the history of upper respiratory tract virus infections within 1 week before the onset of renal failure. In case 1, acute phase(10 days) renal biopsy showed combined with acute tubulointerstitial nephritis, and his renal function recovered completely after glucocorticoids treatment. In case 2, renal biopsy at 6 months in course of disease showed the combined with subacute tubulointerstitial nephritis, and his renal function was improved partly after glucocorticoids treatment. Conclusions For children with Dent disease combined with acute renal failure, especially with upper respiratory tract virus infections and other inducement, renal biopsy should be early performed to exclude the possibility of acute tubulointerstitial nephritis, so that the treatment can be timely conducted and the prognosis can be improved.
Objective To explore the etiology and prognosis of Dent disease combined with renal failure in children. Methods The clinical data of 2 children with Dent disease combined with renal failure from January 2014 to December 2016 were analyzed and the related literature was reviewed. Results Both of them were male, with the age of 8 and 10 years old respectively. Their renal functions were normal, and no renal calcification. Both of them had the history of upper respiratory tract virus infections within 1 week before the onset of renal failure. In case 1, acute phase(10 days) renal biopsy showed combined with acute tubulointerstitial nephritis, and his renal function recovered completely after glucocorticoids treatment. In case 2, renal biopsy at 6 months in course of disease showed the combined with subacute tubulointerstitial nephritis, and his renal function was improved partly after glucocorticoids treatment. Conclusions For children with Dent disease combined with acute renal failure, especially with upper respiratory tract virus infections and other inducement, renal biopsy should be early performed to exclude the possibility of acute tubulointerstitial nephritis, so that the treatment can be timely conducted and the prognosis can be improved.
引文
[1]Utsch B,B?kenkamp A,Benz MR,et al.Novel OCRL1mutations in patients with the phenotype of Dent disease[J].Am J Kidney Dis,2006,48(6):942.
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[3]Devuyst O.Dent's disease:chloride-proton exchange controls proximal tubule endocytosis[J].Nephrol Dial Transplant,2010,25(12):3832-3835.
[4]Cho HY,Lee BH,Choi HJ,et al.Renal manifestations of Dent disease and Lowe syndrome[J].Pediatr Nephrol,2008,23(2):243-249.
[5]Annigeri RA,Rajagopalan R.Hypophosphatemic rickets due to Dent's disease:a case report and review of literature[J].Indian J Nephrol,2009,19(4):163-166.
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[8]Thakker RV.Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis[J].Kidney Int,2000,57(3):787-793.
[9]Claverie-Martin F,Ramos-Trujillo E,Garcia-Nieto V.Dent's disease:clinical features and molecular basis[J].Pediatr Nephrol,2011,26(5):693-704.
[10]Anglani F,D'Angelo A,Bertizzolo LM,et al.Nephrolithiasis,kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations[J].Springerplus,2015,4:492.
[11]Wong W,Poke G,Stack M,et al.Phenotypic variability of Dent disease in a large New Zealand kindred[J].Pediatr Nephrol,2017,32(2):365-369.
[12]Kubo K,Aizawa T,Watanabe S,et al.Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?[J].Pediatr Int,2016,58(8):747-749.
[13]Holder M,Bald M,Leichter HE,et al.Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient[J].Pediatr Nephrol,2004,19(1):122.
[14]Bhardwaj S,Thergaonkar R,Sinha A,et al.Phenotype of Dent disease in a cohort of Indian children[J].Indian Pediatr,2016,53(11):977-982.
[15]仇丽茹,周建华.82例儿童慢性肾功能衰竭临床分析[J].临床儿科杂志,2004,22(12):789-791.
[16]Szczepanska M,Zaniew M,Recker F,et al.Dent disease in children:diagnostic and therapeutic considerations[J].Clin Nephrol,2015,84(4):222-230.
[17]Brakemeier S,Si H,Gollasch M,et al.Dent's disease:identification of a novel mutation in the renal chloride channel CLCN5[J].Clin Nephrol,2004,62(5):387-390.
[18]He G,Zhang H,Wang F,et al.Diagnosis and treatment of Dent disease in 10 Chinese boys[J].Intractable Rare Dis Res,2017,6(1):41-45.
[19]Sekine T,Komoda F,Miura K,et al.Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA:genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria[J].Nephrol Dial Transplant,2014,29(2):376-384.
[20]Ludwig M,Utsch B,Balluch B,et al.Hypercalciuria in patients with CLCN5 mutations[J].Pediatr Nephrol,2006,21(9):1241-1250.
[21]Lloyd SE,Pearce SH,Fisher SE,et al.A common molecular basis for three inherited kidney stone diseases[J].Nature,1996,379(6564):445-449.
[2]Grand T,L'Hoste S,Mordasini D,et al.Heterogeneity in the processing of CLCN5 mutants related to Dent disease[J].Hum Mutat,2011,32(4):476-483.
[3]Devuyst O.Dent's disease:chloride-proton exchange controls proximal tubule endocytosis[J].Nephrol Dial Transplant,2010,25(12):3832-3835.
[4]Cho HY,Lee BH,Choi HJ,et al.Renal manifestations of Dent disease and Lowe syndrome[J].Pediatr Nephrol,2008,23(2):243-249.
[5]Annigeri RA,Rajagopalan R.Hypophosphatemic rickets due to Dent's disease:a case report and review of literature[J].Indian J Nephrol,2009,19(4):163-166.
[6]Addis M,Meloni C,Tosetto E,et al.An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes[J].Eur J Hum Genet,2013,21(6):687-690.
[7]Wrong OM,Norden AG,Feest TG.Dent's disease;a familial proximal renal tubular syndrome with low-molecular-weight proteinuria,hypercalciuria,nephrocalcinosis,metabolic bone disease,progressive renal failure and a marked male predominance[J].QJM,1994,87(8):473-493.
[8]Thakker RV.Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis[J].Kidney Int,2000,57(3):787-793.
[9]Claverie-Martin F,Ramos-Trujillo E,Garcia-Nieto V.Dent's disease:clinical features and molecular basis[J].Pediatr Nephrol,2011,26(5):693-704.
[10]Anglani F,D'Angelo A,Bertizzolo LM,et al.Nephrolithiasis,kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations[J].Springerplus,2015,4:492.
[11]Wong W,Poke G,Stack M,et al.Phenotypic variability of Dent disease in a large New Zealand kindred[J].Pediatr Nephrol,2017,32(2):365-369.
[12]Kubo K,Aizawa T,Watanabe S,et al.Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?[J].Pediatr Int,2016,58(8):747-749.
[13]Holder M,Bald M,Leichter HE,et al.Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient[J].Pediatr Nephrol,2004,19(1):122.
[14]Bhardwaj S,Thergaonkar R,Sinha A,et al.Phenotype of Dent disease in a cohort of Indian children[J].Indian Pediatr,2016,53(11):977-982.
[15]仇丽茹,周建华.82例儿童慢性肾功能衰竭临床分析[J].临床儿科杂志,2004,22(12):789-791.
[16]Szczepanska M,Zaniew M,Recker F,et al.Dent disease in children:diagnostic and therapeutic considerations[J].Clin Nephrol,2015,84(4):222-230.
[17]Brakemeier S,Si H,Gollasch M,et al.Dent's disease:identification of a novel mutation in the renal chloride channel CLCN5[J].Clin Nephrol,2004,62(5):387-390.
[18]He G,Zhang H,Wang F,et al.Diagnosis and treatment of Dent disease in 10 Chinese boys[J].Intractable Rare Dis Res,2017,6(1):41-45.
[19]Sekine T,Komoda F,Miura K,et al.Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA:genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria[J].Nephrol Dial Transplant,2014,29(2):376-384.
[20]Ludwig M,Utsch B,Balluch B,et al.Hypercalciuria in patients with CLCN5 mutations[J].Pediatr Nephrol,2006,21(9):1241-1250.
[21]Lloyd SE,Pearce SH,Fisher SE,et al.A common molecular basis for three inherited kidney stone diseases[J].Nature,1996,379(6564):445-449.