髓质海绵肾误漏诊原因分析

髓质海绵肾（ｍｅｄｕｌｌａｒｙ ｓｐｏｎｇｅｋｉｄｎｅｙ,ＭＳＫ）临床并不罕见,普通人群发病率为 １／５０００－１／２０ ０００,但由于 ＭＳＫ常无症状,给早期诊断造成困难。我们报告４例ＭＳＫ,结合文献复习,以提高大家对ＭＳＫ的认识,减少误漏诊的发生。 一、病例摘要 病例１ 女,３０岁,主诉“发作性肢体无力２年”。２年前开始发作性肢体无力,严重时言语困难,偶有腰背痛、口渴、多饮、夜尿增多。１年前外院查血钾２．４ｍｍｏｌ／Ｌ,ＣＯ２ＣＰ １４ ｍｍｏｌ／Ｌ,尿ｐＨ ８．０,ＷＢＣ ＋＋,诊为“慢性肾盂肾炎（…     

髓质海绵肾的诊断和治疗（附8例报告）

目的 探讨髓质海绵肾的临床特点及其诊断、治疗原则。方法 回顾性分析8例髓质海绵肾患者的临床资料。结果 8例患者经对症治疗后临床症状均得到缓解，无1例死亡。结论 髓质海绵肾的主要临床表现为肾绞痛、血尿及尿频。CT能早期发现肾锥体内细小结石及肾集合管扩张，腹部平片（kidney ureter bladder，KUB）及静脉尿路造影（intravenous urography，IVU）可以确诊。治疗以保肾、解痉利尿、防治泌尿系感染等措施为主。     

全基因组测序技术在髓质海绵肾病因学的研究

目的:观察髓质海绵肾(MSK)患者基因特点,探讨遗传因素在MSK发生中的作用。方法:采用全基因组测序,对7例髓质海绵肾结石患者进行基因检测,并与正常人基因组进行差异分析,基因型频率差异倍数在10倍以上,认为在患者和对照之间差异有统计学意义,可能与疾病发生明显相关。通过基因本体(GO)分析出其与髓质海绵肾发生存在的关系,...     

干燥综合征及髓质海绵肾1例

我院收治1例干燥综合征及髓质海绵肾的患者,查阅国内外文献报道罕见,现报道如下.     

儿童髓质海绵肾合并远端肾小管酸中毒一例

患儿：男,3岁7个月,因“排黄色稀烂便5d,解浓茶色尿半天”入院。体格检查：血压83／50mmHg,体质量12．5k。辅助检查：尿常规：pH7．5,尿比重1．005,潜血（＋＋＋）,沉渣红细胞4．7×10^9个／L,蛋白（＋）,尿钙肌酐之比0．13。K＋3．05mmol／L,C1-115．8mmol／L,Ca2＋2．00mmol／L。血pH7．25,HC03-8mmol／L,碱剩余-22mmol／L,阴离子间隙12mmol／L。     

双侧髓质海绵肾合并先天性偏身肥大一例

患者女性,19岁,因发热、腰痛伴尿频、尿急3 d于2002年7月8日急诊入院。急诊查WBC 19.4×10~9/L、中性粒细胞0.872、淋巴细胞0.08,尿蛋白1.5 g/L、白细胞满视野、红细胞35～40/HP,双肾B超示双肾增大、右肾盂轻度积水。以“急性肾盂肾炎”收入本科。入院查体体温38.7℃,一般情况尚可,双侧眼睑无水肿,左侧面部明显肥大(图1),左侧     

髓质海绵肾的诊断、治疗及护理

髓质海绵肾（MSK）是一种以肾髓质集合管和锥体部的乳头管呈梭形扩张或小囊状扩张为特征的先天性可能具有遗传倾向的良性肾髓质病变，临床上较少见。从1949年正式命名至1974年，欧洲共有250余例的报道，国内迄今不足100例。Palubinskas等1963年复习未经挑选的静脉尿路造影检查（IVP）2465例，从中共发现MSK14例，发现率约为0．5％。     

3例髓质性海绵肾并发结石患者体外震波碎石治疗的护理

对3例髓质性海绵肾并发结石患者进行2次体外震波碎石（ESWL）治疗，术前留置输尿管导管（导管内注入液体石蜡），术后给予补液、排石、利尿及解痉治疗；对1例合并周期性低钾麻痹患者术前、术后及时补钾。结果治疗1～2周后摄尿路平片示：双肾、输尿管无残留结石。提示ESWL治疗髓质性海绵肾损伤小，安全有效；优质护理是获得良好效果的保障。     

Rabson-Mendenhall syndrome: medullary sponge kidney, a new component

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance, extreme hyperinsulinemia, postprandial hyperglycemia, growth retardation, and dysmorphisms. Enlargement of the kidneys and nephrocalcinosis have been described previously. We report a 10-year-old boy who presented with gross hematuria, unilateral hydronephrosis, and the initial diagnosis of bilateral extensive medullary nephrocalcinosis. Medullary sponge kidney (MSK) was included in the differential diagnosis given the ultrasound findings. Further evaluation by intravenous pyelogram confirmed the suspected bilateral MSK. Given the patient’s history of hydronephrosis due to an obstructing renal stone and MSK, urine calcium excretion was assessed and found to be markedly increased at 9.5 mg/kg per day. To our knowledge, this is the first report of Rabson-Mendenhall syndrome and an association with MSK. We recommend evaluation for nephrocalcinosis, MSK, and hypercalciuria in all children diagnosed with Rabson-Mendenhall syndrome.     

Lithiasis in cystic kidney disease and malformations of the urinary tract

The prevalence of renal stones in renal cystic and malformative conditions exceeds the prevalence of renal stones in the general population, suggesting that the above-mentioned cystic and malformative disorders favor stone formation. Urinary stasis is generally assumed to play a major part in the pathogenesis of the nephrolithiasis associated with distorted renal anatomy due to a delayed washout of crystals and risk of urinary infections. However metabolic factors are also important in the pathogenesis of stones in these conditions. Indeed, metabolic abnormalities have been observed in the majority of stone-forming patients with conditions such as horseshoe kidney and ureteropelvic junction obstruction. Five different models of stone formation can be identified, depending on stone composition, risk of infection stones, and pathogenesis of renal cystic and malformative conditions. A proper metabolic evaluation should be conducted to diagnose specific, treatable metabolic disorders, thereby reducing the frequency of recurrent stone disease in these conditions as well.     

乳腺髓样癌的治疗

目的探讨乳腺髓样癌临床特征、治疗和预后。方法回顾性分析1995年1月至1999年12月收治的乳腺髓样癌的临床资料。结果26例乳腺髓样癌占同期治疗女性乳腺癌616例的4.2%,年龄31~66(45.8±10.6)岁,肿瘤大小1~5 CM,腋淋巴结阳性率23.1%,腋淋巴结转移的发生与乳腺肿瘤的大小无关,免疫组化检测雌激素(ER)、孕激素(PR)和HER-2/NEU的阳性率分别为26.3%、21.1%和5.3%。全组进行手术和辅助化疗(环磷酰胺、甲氨蝶呤和氟尿嘧啶)。5例服用三苯氧胺,3例进行放射性治疗。随访时间5~9年,平均7.5年,总的5年生存率为88.4%。结论乳腺髓样癌的预后较好,手术加辅助性化疗是治疗的重要手段,分子生物学指标在乳腺髓样癌预后中的作用应该受到足够的重视。     

Microdissection findings of medullary sponge kidney

Findings on microdissection of specimens of medullary sponge kidney showed uniform enlargement of collecting tubules in part of the papillae. Nephrons were normal in fragments without calculi and infection.     

275例急性肾损伤的临床资料及预后分析

目的 分析急性肾损伤（acute kidney injury,AKI）的病因,探讨影响其预后的危险因素,为临床更好的认识和预防AKI、改善预后提供依据.方法 回顾性分析275例AKI患者的一般资料、病因、临床特点、实验室检查及治疗情况,分析其与预后的关系.结果 纳入本研究的AKI患者275例,男181例,女94例,中位年龄为57岁,其中青年组（≤40岁）54例（占 19.6%）,中年组（40～60岁）97例（占 35.3%）,老年组（≥61岁）124例（占 45.1%）.275例患者的AKI分期中1期88例（占32%）,2期83例（占 30.2%）,3期104例（占 37.8%）.肾前性病因最常见,153例（占 55.6%）,其中感染相关性疾病最多,其次为心脑血管疾病.肾性病因中以药物性因素最多,其次为肿瘤相关性肾病.肾后性因素以尿路结石最常见,其次为肿瘤转移或浸润.多因素非条件Logistic回归分析示机械通气、血管活性药物、多器官功能障碍综合征（multiple organ dysfunction syndrome,MODS）、低蛋白血症是AKI患者死亡的独立危险因素,OR值分别为 2.445、43.530、2.801和3.118（均P＜0.01）.结论 AKI患者中,感染、心脑血管疾病等肾前性病因引起的AKI较常见,要及早诊断并积极干预.机械通气、血管活性药物、MODS、低蛋白血症是AKI患者死亡的独立危险因素.     

慢性肾脏病并发高血压危象临床分析

目的探讨慢性肾脏病（CKD）合并高血压危象患者的发病诱因、诊治时间与肾功能改善的相关性。方法回顾性分析我院10年来发生高血压危象的38例CKD患者的临床资料,对表现为慢性肾衰竭急性加重的患者进行随访。结果38例中,15例发生高血压危象时有明确诱因,主要为情绪激动、过度劳累和大量饮酒。高血压危象发病季节以秋冬季为主,就诊时间在起病24h之后居多。在18例表现为慢性肾衰竭急性加重的CKD患者中,24h内就诊者出院时肾功能明显改善,平均随访1年,坚持降压治疗者进入替代治疗的比率显著低于未规律服药者（P=0．020）。结论高血压危象使CKD患者的肾功能急剧恶化,及时就诊和有效的降压治疗可以延缓肾功能恶化。     

Renal acidification defects in medullary sponge kidney

Thirteen patients with medullary sponge kidney underwent a short ammonium chloride loading test to investigate their renal acidification capacity. All but 1 presented with a history of recurrent renal calculi and showed bilateral widespread renal medullary calcification on X-ray examination. Nine patients had some form of renal acidification defect; 8 had the distal type of renal tubular acidosis, 2 the complete and 6 the incomplete form. One patient had proximal renal tubular acidosis. These findings, which suggest that renal acidification defects play an important role in the pathogenesis of renal calculi in medullary sponge kidney, have considerable therapeutic implications.