多囊肾合并Caroli综合征一例报告

多囊肾是一种遗传性疾病,通常在40~60岁时导致终末期肾病,其特征是肾脏进行性增大,伴有较多囊肿、肾区疼痛、血尿和高血压。多囊肾常伴有肝、脾、卵巢等器官囊肿,以多囊肝最为多见。因此,有时会单纯认为多囊肝为多囊肾的并发症,但是这些囊性综合征与Caroli病之间的联系也是极其密切的。怀疑、筛查和及时诊断多囊肾患者中是否存在Caroli病,可延长患者的生存期及判断患者的预后[1]。     

Long-term outcome of liver resection and transplantation for Caroli disease and syndrome

OBJECTIVE: To assess the preoperative disease characteristics as well as the rate of postoperative complications, patient survival, and course of symptoms after liver resection or orthotopic liver transplantation (OLT) for Caroli disease (CD) or syndrome (CS). SUMMARY BACKGROUND DATA: The clinical course of monolobar or diffuse CD or CS is often characterized by multiple conservative treatment attempts and interventions with recurrent episodes of cholangitis and a serious reduction in quality of life. The role and effectiveness of surgical treatment is still not well defined. PATIENTS AND METHODS: Between June 1989 and December 2002, we treated 44 consecutive patients with CD or CS who had failure of conservative treatment before and were referred for surgical intervention. Demographic and clinical data, operative procedures and related morbidity, course of symptoms, and long-term follow-up were reviewed. Four patients with palliative resection for cholangiocarcinoma and incidental diagnosis of CD were excluded from the analysis. RESULTS: Twenty-two women and 18 men had a median period of 26.5 months from onset of symptoms to surgical therapy. Their median age at therapy was 49 years and 80% of the patients had monolobar disease with a left-right ratio of 2.6 to 1. Thirty-three (82.5%) patients underwent liver resection, while 4 (10%) patients received OLT for diffuse disease. Biliodigestive anastomosis alone was performed in 3 (7.5%) patients with contraindications to OLT. Patients (37.5%) had minor postoperative complications, which were treated conservatively, while 2 (5%) transplanted patients had a reoperation due to intraperitoneal bleeding. After a median follow-up of 86.5 months, we observed a favorable patient and graft survival. Three deaths during follow-up were not related to treatment or disease complications. Follow-up of disease-related symptoms, biliary complications, and antibiotic treatment revealed a significant improvement. CONCLUSION: Our data show that liver resection for monolobar CD or CS and OLT for diffuse manifestations can achieve excellent long-term patient survival with marked symptom relief. Because of life-threatening long-term complications such as biliary sepsis and development of cholangiocarcinoma, timely indication for surgical treatment is crucial.     

Secondary hypersplenism due to Caroli syndrome complicating immunosuppression in a renal allograft recipient

The differential diagnosis of thrombocytopenia and leukocytopenia in renal allograft recipient can be troublesome. We report on a patient in whom the rare case of portal hypertension with secondary hypersplenism due to Caroli syndrome was detected to be the cause for the hematological disturbance. The management of the thereby complicated immunosuppressive regimen is discussed.     

Rasmussen syndrome. Clinical study

Rasmussen's syndrome is a specific progressive disease affecting primarily one hemisphere, accompanied by intractable seizures and leading to severe neurologic and mental deficit. The authors present one child with frequent partial motor seizures and myoclonic seizures refractory to antiepileptic drug therapy who was diagnosed with epilepsia partialis continua. After a period of 15 months the patient develops a spastic right hemiparesis and mental degradation. Association of this signs of the clinical picture lead to the diagnostic of Rasmussen's syndrome who was confirmed by the presence of localized EEG abnormalities and imaging studies.     

一例极低体重儿Caroli综合征行腹腔镜下肝门部囊肿切除术的麻醉管理

Caroli综合征又称先天性肝内胆管囊性扩张症并伴有先天性肝纤维化,是一种罕见的小儿先天性疾病。对于弥漫性病变累及的患者,选择的治疗方法是原位肝移植。本例为6月龄女婴,发育严重落后,体重仅为3.8kg,腹胀明显,合并大量腹水、贫血,为延长等待肝移植的时间,拟行腹腔镜下胆总管囊肿切除后肝总管空肠吻合术,使麻醉管理具有挑战性,现将我院诊治的一例Caroli综合征的麻醉汇报并做文献复习,并探讨低体重患儿的麻醉管理。     

The abdominal compartment syndrome. Clinical relevance

Increased intra-abdominal pressure (IAP) may occur in a number of different situations encountered by intensivists, such as tense ascites, abdominal hemorrhage, use of military antishock trousers, abdominal obstruction, during laparoscopy, large abdominal tumors and peritoneal dialysis.1-3 Both clinical and experimental evidence indicate that increased IAP may adversely affect cardiac, renal, respiratory and metabolic functions.1-5 Despite this, increased IAP is rarely recognized and treated in Intensive Care Unit (ICU) settings. There appears to be two reasons for this: the physiologic consequences of increased IAP are not well know, to most physicians and, more importantly, the capability of easily measuring IAP has not been well documented. In this chapter, we will discuss: 1) the different methods proposed to evaluate IAP in ICU; 2) the physiopathological consequences of increased IAP; 3) the existing clinical data about IAP in critically ill patients. Considering overall our data, we can conclude that: 1) different techniques are available at the bedside to estimate the IAP; 2) the IAP ranges between 10 and 20 cmH2O, substantially increased compared to normal subjects. Most of the patients have IAH, while few of them (<5%) present clinical characteristics of ACS; 3) the IAP is different among different categories of patients and its increase is not limited to surgical patients only; 4) the increase in IAP appears to influence respiratory function, homodynamic, kidney, gut and brain physiology; 5) the IAP seems to be correlated with severity scores but its relation to mortality is controversial; 6) the routine measurements of IAP by means of bladder pressure are not associated with an increased rate of urinary tract infections.     

Ataxia-telangiectasia syndrome. Clinical and diagnostic aspects

Ataxia-telangiectasia (A-T) is a genetic disease, which mainly affects the skin and the central nervous system. Authors present 3 cases that presented for walking disorders starting at the age of 2 to 4 years old. All patients had a history of repeated broncho-pulmonary infections. In one case the syndrome was well defined, both clinically and immunologically, which made the diagnosis simple. In the other two cases, the initial diagnose was cerebral palsy the ataxic form and myasthenia. In all patients we observed low or no serum levels of IgA and IgE and high serum levels of a-fetoprotein. AT diagnose must be suspected in all children who exhibit the association of progressive cerebellar ataxia, which first appears in early childhood, with repeated bronchopulmonary infections and immune deficiencies, the later appearance of telangiectasia confirming the diagnosis.     

Ruder syndrome. Clinical and pathologic correlation

Ruder syndrome is an unusual varient of adrenal hyperfunction characterized clinically by debilitating osteopenia, and pathologically by bilateral micronodular adrenal hyperplasia. A unique case resembling Ruder syndrome is described in which the dominant pathologic feature was unilateral adrenal adenomatosis.     

亲体肝移植治疗先天性肝内胆管扩张症(Caroli病)一例

先天性肝内胆管扩张症(Caroli病)过去治疗主要是根据病变范围而定,通常在局限于某一叶时可手术切除,最终多因肝功能衰竭而死亡,治疗没有更好的办法.     

Unusual renal manifestation of Caroli disease: AA amyloidosis

Congenital hepatic fibrosis is a fairly uncommon disorder and it is usually associated with other fibropolycystic disorders, including renal involvement. Main clinical features are hepatic fibrosis, portal hypertension, and renal cystic disease. There are multifocal saccular dilatations of segmental bile ducts, usually with accompanying calculi formation and recurrent bacterial cholangitis. Renal cystic disorders are common complications of Caroli disease (CD), but renal amyloidosis is fairly uncommon. We present a patient who was diagnosed with CD at the age of 31 years and in whom renal AA amyloidosis developed at the age of 45 years due to recurrent bacterial cholangitis.     

Dandy-Walker syndrome. Clinical analysis of 23 cases

A clinical analysis of 23 patients with Dandy-Walker malformation indicates that more than 85% of them were diagnosed at or before 1 year of age, and that the incidence of associated anomalies is approximately 50%, with a 17% incidence for agenesis of the corpus callosum. The significance of the presence of these anomalies is substantiated by the fact that of the seven deaths recorded, six were related to this disease and five were affected by associated anomalies. The high mortality rate (26%) is comparable to that of other series. The differential diagnosis with posterior fossa extra-axial cysts is discussed. Ten patients were primarily treated with excision of the cyst membrane; all of them required subsequent shunting to control the intracranial pressure, demonstrating the futility of this approach. None of the patients treated with lateral ventricle shunting suffered an upward herniation of the posterior fossa contents, suggesting that combined shunting of the lateral and fourth ventricles is rarely necessary. The technical advantages of posterior fossa shunting alone are outlined. Of the 16 survivors, 14 were assessed for their mental development by means of standard psychometric testing. The results of the intelligence quotient (IQ) scoring have indicated that 71% of the patients have subnormal mental development (IQ less than 83). There was no significant relationship between retardation and associated anomalies, although agenesis of the corpus callosum was related to poor intellectual development in the two patients so affected (IQ's of 50 and 73).     

Cervical spondylotic myelopathy. Clinical syndrome and natural history.

A wide-based spastic gait is the classical presentation of the patient with cervical spondylotic myelopathy. A complete neurologic evaluation is needed to determine the degree of involvement and to classify the clinical syndrome. The natural history seems to be one of static neurologic deficit or episodic progression.