案例#1
一例35岁的女性患者,表现为严重的左侧胁腹痛。该患者既往有左背轻微疼痛和尿路感染(UTI),几天前她因怀疑有尿路感染而给予抗生素治疗。体格检查显示该患者无发热,血压为135/85mmHg,无耻骨上压痛但左侧胁脊角有轻微压痛。尿液检测试纸结果显示尿pH为6.0、血尿2+。
案例#2
1例47岁男性患者表现为无症状镜下血尿, 病史以高血压尤为显著,使用血管紧张素II转化酶抑制剂治疗。 血压为130/80mmHg。 无胁腹压痛或耻骨上压痛。 前列腺检查结果提示前列腺平滑、有轻度肿大。 尿液检测试纸检查提示pH为6.0、血尿4+、尿蛋白1+。
其他表现
髓质海绵肾(MSK)可能伴随有其他先天畸形如偏身肥大(一侧躯体肥大)、Beckwith-Wiedemann综合征(先天性过度生长综合征)、Caroli病(纤维多囊肝病)、先天性肝纤维化、常染色体显性遗传性多囊肾和Ehlers-Danlos综合征(结缔组织病)。[3]Chesney RW, Kaufman R, Stapleton FB, et al. Association of medullary sponge kidney and medullary dysplasia in Beckwith-Wiedemann syndrome. J Pediatr. 1989 Nov;115(5 Pt 1):761-4.http://www.ncbi.nlm.nih.gov/pubmed/2809912?tool=bestpractice.com[4]Diouf B, Ka EH, Calender A, et al. Association of medullary sponge kidney disease and multiple endocrine neoplasia type IIA due to RET gene mutation: is there a causal relationship? Nephrol Dial Transplant. 2000 Dec;15(12):2062-3.http://ndt.oxfordjournals.org/content/15/12/2062.fullhttp://www.ncbi.nlm.nih.gov/pubmed/11096158?tool=bestpractice.com MSK也可能与原发性甲状旁腺功能亢进相关。[5]Maschio G, Tessitore N, D'Angelo A, et al. Medullary sponge kidney and hyperparathyroidism: a puzzling association. Am J Nephrol. 1982;2(2):77-84.http://www.ncbi.nlm.nih.gov/pubmed/7180904?tool=bestpractice.com[6]Dlabal PW, Jordan RM, Dorfman SG. Medullary sponge kidney and renal-leak hypercalciuria: a link to the development of parathyroid adenoma? JAMA. 1979 Apr 6;241(14):1490-1.http://www.ncbi.nlm.nih.gov/pubmed/430689?tool=bestpractice.com[7]Gambaro G, Feltrin GP, Lupo A, et al. Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. Kidney Int. 2006 Feb;69(4):663-70.http://www.ncbi.nlm.nih.gov/pubmed/16395272?tool=bestpractice.com[8]Cobben JM, Breuning MH, Schoots C, et al. Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int. 1990 Nov;38(5):880-5.http://www.ncbi.nlm.nih.gov/pubmed/2266672?tool=bestpractice.com[9]Jordon D, Harpaz N, Thung SN. Caroli's disease and adult polycystic kidney disease: a rarely recognized association. Liver. 1989 Feb;9(1):30-5.http://www.ncbi.nlm.nih.gov/pubmed/2921938?tool=bestpractice.com[10]Torres VE, Erickson SB, Smith LH, et al. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1988 Apr;11(4):318-25.http://www.ncbi.nlm.nih.gov/pubmed/3354568?tool=bestpractice.com 非典型表现包括慢性肾脏病(chronic kidney disease,CKD),是由于肾盂肾炎和鸟粪石(磷酸铵镁)肾脏结石反复发作引起的。[11]Pesce C, Colombo B, Nicolini E, et al. Medullary sponge kidney with severe renal function impairment: a case report [in Italian]. Pediatria Med Chir. 1995 Jan-Feb;17(1):65-7.http://www.ncbi.nlm.nih.gov/pubmed/7739931?tool=bestpractice.com[12]Kinoshita H. Clinical studies on medullary sponge kidney evaluated from urolithiasis [in Japanese]. Nippon Hinyokika Gakkai Zasshi. 1990 Mar;81(3):372-9.http://www.ncbi.nlm.nih.gov/pubmed/2359214?tool=bestpractice.com[13]Jungers P, Joly D, Barbey F, et al. ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. Am J Kidney Dis. 2004 Nov;44(5):799-805.http://www.ncbi.nlm.nih.gov/pubmed/15492945?tool=bestpractice.com