髓质海绵肾及其并发症的认识
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摘要
髓质海绵肾(MSK)是一种先天性肾脏发育异常性疾病,病理以肾锥体部的乳头管呈梭形扩张和肾髓质集合管或小囊状扩张为主要表现,又称为肾锥体囊肿病或先天性肾集合管囊性扩张。近年来,陆续出现MSK病例的相关报道,对其发病机制的研究也逐渐深入,但确切病因尚不明确,多认为属于先天性疾病,目前尚无确切的根治方法,只能预防和治疗MSK的相关并发症。通过对MSK发病机制、临床表现、诊断、治疗和预后的深入认识,以掌握该疾病的诊治思路和延缓疾病进展。
Medullary sponge kidney( MSK) is a congenital renal developmental abnormality disease,with shuttleshaped expansion of papillary duct in pyramidal part of kidney and the renal medullary collecting duct or small cystic expansion as the main pathological manifestations,also known as renal pyramidal cyst disease or congenital renal collecting cystic dilatation. In recent years,the cases of MSK have been reported one after another,and the research on its pathogenesis has also gradually deepened,but the exact cause is not clear with the main opinion of congenital disease,and now there is no radical method,but only preventive and therapeutic measures for the related complications of MSK. Here is to make a review of the in-depth understanding of the pathogenesis,clinical manifestations,diagnosis,treatment and prognosis of MSK,to master the progress of the diagnosis and treatment to delay the disease progression.
Medullary sponge kidney( MSK) is a congenital renal developmental abnormality disease,with shuttleshaped expansion of papillary duct in pyramidal part of kidney and the renal medullary collecting duct or small cystic expansion as the main pathological manifestations,also known as renal pyramidal cyst disease or congenital renal collecting cystic dilatation. In recent years,the cases of MSK have been reported one after another,and the research on its pathogenesis has also gradually deepened,but the exact cause is not clear with the main opinion of congenital disease,and now there is no radical method,but only preventive and therapeutic measures for the related complications of MSK. Here is to make a review of the in-depth understanding of the pathogenesis,clinical manifestations,diagnosis,treatment and prognosis of MSK,to master the progress of the diagnosis and treatment to delay the disease progression.
引文
[1] Gambaro G,Feltrin GP,Lupo A,et al. Medullary sponge kidney(Lenarduzzi-Cacchi-Ricci disease):A Padua Medical School discovery in the 1930s[J]. Kidney Int,2006,69(4):663-670.
[2] Fabris A,Lupo A,Ferraro PM,et al. Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity[J]. Kidney Int,2013,83(2):272-277.
[3] Gambaro G,Danza FM,Fabris A. Medullary sponge kidney[J].Curr Opin Nephrol Hypertens,2013,22(4):421-426.
[4] Ria P,Fabris A,Dalla Gassa A,et al. New non-renal congenital disorders associated with medullary sponge kidney(MSK)support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers[J]. Urolithiasis,2017,45(4):359-362.
[5] Yagisawa T,Kobayashi C,Hayashi T. Contributory metabolic factors in the development of nephrolithiasis in patients with medullary sponge kidney[J]. Am J Kidney Dis,2001,37(6):1140-1143.
[6]林鹭,郁胜强.髓质海绵肾的新认识[J].中国全科医学,2015,18(18):2213-2216.
[7]侯凌,林汉华,刘铜林.同胞髓质海绵肾3例报告[J].中华儿科杂志,1998,36(9):568-569.
[8] Ginalski JM,Portmann L,Jaeger P. Does medullary sponge kidney cause nephrolithiasis?[J]. AJR Am J Roentgenol,1990,155(2):299-302.
[9]王海燕.肾脏病学[M]. 3版.北京:人民卫生出版社,2008:1769-1771.
[10]温书泉,邓戈锋,卢祺,等. MSCT在诊断髓质海绵肾中的应用[J].中国中西医结合影像学杂志,2013,11(5):501-503.
[11] Ginalski JM,Schnyder P,Portmann L,et al. Medullary sponge kidney on axial computed tomography:Comparison with excretory urography[J]. Eur J Radiol,1991,12(2):104-107.
[12] Lang EK,Macchia RJ,Thomas R,et al. Improved detection of renal pathologic features on multiphasic helical CT compared with IVU in patients presenting with microscopic hematuria[J]. Urology,2003,61(3):528-532.
[13] Maw AM,Megibow AJ,Grasso M,et al. Diagnosis of medullary sponge kidney by computed tomographic urography[J]. Am J Kidney Dis,2007,50(1):146-150.
[14] Koraishy FM,Ngo TT,Israel GM,et al. CT urography for the diagnosis of medullary sponge kidney[J]. Am J Nephrol,2014,39(2):165-170.
[15]段婧.超声诊断髓质海绵肾的临床意义[J].医药前沿,2014,3:234.
[16]张桂成.髓质海绵肾的影像学表现[J].中国中西医结合影像学杂志,2015,13(6):666-668.
[17] Hida T,Nishie A,Asayama Y,et al. MR imaging of focal medullary sponge kidney:Case report[J]. Magn Reson Med Sci,2012,11(1):65-69.
[18] Al-Said J,Brumback MA,Moghazi S,et al. Reduced renal function in patients with simple renal cysts[J]. Kidney Int,2004,65(6):2303-2308.
[19]雷鸣,刘春晓,曾国华,等.髓质海绵肾合并代谢异常的诊断和意义[J].南方医科大学学报,2010,30(2):403-404.
[20] Evan AP,Worcester EM,Williams JC Jr,et al. Biopsy proven medullary sponge kidney:Clinical findings,histopathology,and role of osteogenesis in stone and plaque formation[J]. Anat Rec(Hoboken),2015,298(5):865-877.
[21] Assimos DG. Re:Biopsy Proven Medullary Sponge Kidney:Clinical Findings,Histopathology,and Role of Osteogenesis in Stone and Plaque Formation[J]. J Urol,2015,194(2):424.
[22] Khan SR,Gambaro G. Role of Osteogenesis in the Formation of Randall's Plaques[J]. Anat Rec(Hoboken),2016,299(1):5-7.
[23]孙颖浩.髓质海绵肾结石[J].实用医院临床杂志,2010,7(2):4-5.
[24] Fabris A,Lupo A,Bernich P,et al. Long-term treatment with potassium citrate and renal stones in medullary sponge kidney[J].Clin J Am Soc Nephrol,2010,5(9):1663-1668.
[25]洪扬,许清泉,黄晓波,等.经皮肾镜取石术治疗髓质海绵肾合并结石的效果分析[J].中华外科杂志,2017,55(10):742-745.
[26] Sun H,Zhang Z,Yuan J,et al. Safety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney[J]. Urolithiasis,2016,44(5):421-426.
[27]王雪婷,周广宇,郭莹,等.海绵肾伴Bartter综合征、甲亢及甲旁亢1例[J].中国实验诊断学,2016,20(12):2129-2130.
[28]陈云爽,吴广礼,杨新军.干燥综合征并肾小管酸中毒、髓质海绵肾一例[J].临床误诊误治,2010,23(8):748-749.
[29]仲芳,王旭翔.干燥综合征及髓质海绵肾1例[J].中国中西医结合肾病杂志,2005,6(10):612.
[30] Fabris A,Bruschi M,Santucci L,et al. Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinaryspecific biomarker for the medullary sponge kidney disease[J].Kidney Int,2017,91(2):459-468.
[31] Chutipongtanate S. Breaking the ice:Urine proteomics of medullary sponge kidney disease[J]. Kidney Int,2017,91(2):281-283.
[2] Fabris A,Lupo A,Ferraro PM,et al. Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity[J]. Kidney Int,2013,83(2):272-277.
[3] Gambaro G,Danza FM,Fabris A. Medullary sponge kidney[J].Curr Opin Nephrol Hypertens,2013,22(4):421-426.
[4] Ria P,Fabris A,Dalla Gassa A,et al. New non-renal congenital disorders associated with medullary sponge kidney(MSK)support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers[J]. Urolithiasis,2017,45(4):359-362.
[5] Yagisawa T,Kobayashi C,Hayashi T. Contributory metabolic factors in the development of nephrolithiasis in patients with medullary sponge kidney[J]. Am J Kidney Dis,2001,37(6):1140-1143.
[6]林鹭,郁胜强.髓质海绵肾的新认识[J].中国全科医学,2015,18(18):2213-2216.
[7]侯凌,林汉华,刘铜林.同胞髓质海绵肾3例报告[J].中华儿科杂志,1998,36(9):568-569.
[8] Ginalski JM,Portmann L,Jaeger P. Does medullary sponge kidney cause nephrolithiasis?[J]. AJR Am J Roentgenol,1990,155(2):299-302.
[9]王海燕.肾脏病学[M]. 3版.北京:人民卫生出版社,2008:1769-1771.
[10]温书泉,邓戈锋,卢祺,等. MSCT在诊断髓质海绵肾中的应用[J].中国中西医结合影像学杂志,2013,11(5):501-503.
[11] Ginalski JM,Schnyder P,Portmann L,et al. Medullary sponge kidney on axial computed tomography:Comparison with excretory urography[J]. Eur J Radiol,1991,12(2):104-107.
[12] Lang EK,Macchia RJ,Thomas R,et al. Improved detection of renal pathologic features on multiphasic helical CT compared with IVU in patients presenting with microscopic hematuria[J]. Urology,2003,61(3):528-532.
[13] Maw AM,Megibow AJ,Grasso M,et al. Diagnosis of medullary sponge kidney by computed tomographic urography[J]. Am J Kidney Dis,2007,50(1):146-150.
[14] Koraishy FM,Ngo TT,Israel GM,et al. CT urography for the diagnosis of medullary sponge kidney[J]. Am J Nephrol,2014,39(2):165-170.
[15]段婧.超声诊断髓质海绵肾的临床意义[J].医药前沿,2014,3:234.
[16]张桂成.髓质海绵肾的影像学表现[J].中国中西医结合影像学杂志,2015,13(6):666-668.
[17] Hida T,Nishie A,Asayama Y,et al. MR imaging of focal medullary sponge kidney:Case report[J]. Magn Reson Med Sci,2012,11(1):65-69.
[18] Al-Said J,Brumback MA,Moghazi S,et al. Reduced renal function in patients with simple renal cysts[J]. Kidney Int,2004,65(6):2303-2308.
[19]雷鸣,刘春晓,曾国华,等.髓质海绵肾合并代谢异常的诊断和意义[J].南方医科大学学报,2010,30(2):403-404.
[20] Evan AP,Worcester EM,Williams JC Jr,et al. Biopsy proven medullary sponge kidney:Clinical findings,histopathology,and role of osteogenesis in stone and plaque formation[J]. Anat Rec(Hoboken),2015,298(5):865-877.
[21] Assimos DG. Re:Biopsy Proven Medullary Sponge Kidney:Clinical Findings,Histopathology,and Role of Osteogenesis in Stone and Plaque Formation[J]. J Urol,2015,194(2):424.
[22] Khan SR,Gambaro G. Role of Osteogenesis in the Formation of Randall's Plaques[J]. Anat Rec(Hoboken),2016,299(1):5-7.
[23]孙颖浩.髓质海绵肾结石[J].实用医院临床杂志,2010,7(2):4-5.
[24] Fabris A,Lupo A,Bernich P,et al. Long-term treatment with potassium citrate and renal stones in medullary sponge kidney[J].Clin J Am Soc Nephrol,2010,5(9):1663-1668.
[25]洪扬,许清泉,黄晓波,等.经皮肾镜取石术治疗髓质海绵肾合并结石的效果分析[J].中华外科杂志,2017,55(10):742-745.
[26] Sun H,Zhang Z,Yuan J,et al. Safety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney[J]. Urolithiasis,2016,44(5):421-426.
[27]王雪婷,周广宇,郭莹,等.海绵肾伴Bartter综合征、甲亢及甲旁亢1例[J].中国实验诊断学,2016,20(12):2129-2130.
[28]陈云爽,吴广礼,杨新军.干燥综合征并肾小管酸中毒、髓质海绵肾一例[J].临床误诊误治,2010,23(8):748-749.
[29]仲芳,王旭翔.干燥综合征及髓质海绵肾1例[J].中国中西医结合肾病杂志,2005,6(10):612.
[30] Fabris A,Bruschi M,Santucci L,et al. Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinaryspecific biomarker for the medullary sponge kidney disease[J].Kidney Int,2017,91(2):459-468.
[31] Chutipongtanate S. Breaking the ice:Urine proteomics of medullary sponge kidney disease[J]. Kidney Int,2017,91(2):281-283.