Refractory ascites and graft dysfunction in early renal transplantation / Ascite refratária e disfunção do enxerto no pós-transplante renal precoce

Abstract The occurrence of ascites after Renal Transplant (RT) is infrequent, and may be a consequence of surgical or medical complications. Case report: 61 year-old, male, history of arterial hypertension, tongue carcinoma and alcoholic habits 12-20g/day. He had chronic kidney disease secondary to autosomal dominant polycystic kidney disease, without hepatic polycystic disease. He underwent cadaver donor RT in September 2017. He had delayed graft function by surgically corrected renal artery stenosis. He was admitted in January 2018 for ascites de novo, with no response to diuretics. HE had visible abdominal collateral circulation. Graft dysfunction, adequate tacrolinemia, Innocent urinary sediment, mild anemia, without thrombocytopenia. Serum albumin 4.0g / dL. Normal hepatic biochemistry. Peritoneal fluid with transudate characteristics and serum albumin gradient > 1.1. Ultrasound showed hepatomegaly, permeable vascular axes, without splenomegaly. Mycophenolate mofetil was suspended, with reduced remaining immunosuppression. He maintained refractory ascites: excluded infectious, metabolic, autoimmune and neoplastic etiologies. No nephrotic proteinuria and no heart failure. MRI: micronodules compatible with bile cysts. Upper Digestive Tract Endoscopy did not show gastroesophageal varicose veins. Normal abdominal lymphoscintigraphy. He underwent exploratory laparoscopy with liver biopsy: incomplete septal cirrhosis of probable vascular etiology some dilated bile ducts. He maintained progressive RT dysfunction and restarted hemodialysis. The proposed direct measurement of portal pressure was delayed by ascites resolution. There was further recovery of the graft function. Discussion: Incomplete septal cirrhosis is an uncommon cause of non-cirrhotic portal hypertension. Its definition is not well known, morphological and pathophysiological. We have not found published cases of post-RT ascites secondary to this pathology, described as possibly associated with drugs, immune alterations, infections, hypercoagulability and genetic predisposition.

Resumo A ocorrência de ascite no pós-Transplante Renal (TR) é infrequente, podendo ser consequência de complicações cirúrgicas ou médicas. Caso clínico: 61 anos, masculino, antecedentes de hipertensão arterial, carcinoma da língua e hábitos alcoólicos 12-20g/dia. Doença renal crônica secundária à doença renal poliquística autossômica dominante, sem poliquistose hepática. Submetido a TR de doador cadáver em setembro de 2017. Atraso na função de enxerto por estenose da artéria renal, corrigida cirurgicamente. Internado em janeiro de 2018 por ascite de novo, sem resposta a diuréticos. Circulação colateral abdominal visível. Disfunção do enxerto, tacrolinemia adequada. Sedimento urinário inocente. Anemia ligeira, sem trombocitopenia. Albumina sérica 4,0g/dL. Bioquímica hepática normal. Líquido peritoneal com características de transudado e gradiente sero-ascítico de albumina > 1,1. Ecografia com hepatomegalia, eixos vasculares permeáveis, sem esplenomegalia. Suspendeu micofenolato mofetil, reduziu restante imunossupressão. Manteve ascite refratária: excluídas etiologias infecciosas, metabólicas, autoimunes e neoplásicas. Sem proteinúria nefrótica e sem insuficiência cardíaca. RM: micronódulos compatíveis com quistos biliares. EDA sem varizes gastroesofágicas. Linfocintigrafia abdominal normal. Submetido a laparoscopia exploradora com biópsia hepática: cirrose septal incompleta de provável etiologia vascular, alguns ductos biliares dilatados. Manteve disfunção progressiva do TR, reiniciou hemodiálise. Proposta medição direta da pressão portal, protelada por resolução da ascite. Recuperação posterior da função de enxerto. Discussão: A cirrose septal incompleta é uma causa incomum de hipertensão portal não cirrótica. A sua definição é morfológica e a fisiopatologia, pouco conhecida. Não encontramos publicados casos de ascite pós-TR secundária a esta patologia, descrita como possivelmente associada a fármacos, alterações imunitárias, infecções, hipercoagulabilidade e predisposição genética.

Pain determinants of pain in autosomal dominant polycystic kidney disease / Determinantes de dor em pacientes com doença renal policística autossômica dominante

Pain is the most common symptom reported by ADPKD patients, afflicting approximately 60% of cases and may result from renal hemorrhage, calculi, urinary tract infections, cyst rupture, or due to stretching of the capsule or traction of the renal pedicle. We have recently investigated pain patterns in AD-PKD patients using a translated version of a pain questionnaire specific for AD-PKD population. The questionnaire revealed that 67% patients with ADPKD exhibited some type of pain. The findings of that study emphasized that pain appeared early in the course of ADPKD, when patients still exhibited preserved renal function. In the present study, a multivariate logistic regression analysis disclosed that renal volume (9-fold increased risk) and nephrolithiasis (4-fold increased risk) were the most important determinant factors for pain in ADPKD patients with preserved renal function, after adjustments for the presence of hypertension and duration of the disease.

A dor é o sintoma mais comum relatado pelos pacientes com doença renal policística autossômica dominante (DRPAD), acometendo aproximadamente 60% dos casos, e podendo resultar de hemorragia renal, cálculos, infecções do trato urinário, ruptura do cisto, ou devido ao estiramento da cápsula ou à tração do pedículo renal. Recentemente, investigamos padrões de dor em pacientes com DRPAD usando uma versão traduzida de um questionário de dor específico para a população com DRPAD. O questionário revelou que 67% dos pacientes com DRPAD apresentaram algum tipo de dor. As conclusões do estudo enfatizaram que a dor apareceu no início do curso de ADPKD, quando os pacientes ainda exibiam função renal preservada. O presente estudo, através de uma análise de regressão múltipla, revelou que o volume renal (risco nove vezes maior) e a nefrolitíase (risco quatro vezes maior) foram os fatores determinantes mais importantes para a dor em pacientes com DRPAD com função renal preservada, após ajustes para a presença de hipertensão arterial e duração da doença.

Successfully Treated Escherichia coli-Induced Emphysematous Cyst Infection with Combination of Intravenous Antibiotics and Intracystic Antibiotics Irrigation in a Patient with Autosomal Dominant Polycystic Kidney Disease

A 62-yr-old woman with an autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for further evaluation of intermittent fever, nausea and left flank discomfort. The computed tomography (CT) scan revealed a gas-forming, infectious cyst of approximately 8.1 cm in size in left kidney lower pole. Escherichia coli was identified from the cyst fluid culture examination. Her symptoms improved only after the concomitant use of intravenous ciprofloxacin and an intracystic irrigation of ciprofloxacin through a percutaneous cystostomy drainage. Our case presents the successfully treated emphysematous cyst infection with combination of intravenous antibiotics and intracystic antibiotic therapy instead of surgical management.

Tradução, adaptação cultural e aplicação de um questionário de dor para pacientes com doença renal policística / Translation, cultural adaptation and aplication of a pain questionnaire for patients with polycystic kidney disease

INTRODUÇÃO: A dor é um sintoma comum em pacientes com doença renal policística autossômica dominante (DRPAD), acometendo em torno de 60 por cento dos casos. OBJETIVO: Traduzir para o português, realizar a adaptação cultural e aplicar um questionário específico de dor, desenvolvido e já validado para população americana com DRPAD. PACIENTES E MÉTODO: Realizada por uma equipe multidisciplinar a partir da versão original traduzida, a adaptação cultural implicou em poucas alterações como substituição de palavras por sinônimos ou supressão de termos não comumente utilizados em nossa cultura. Foram feitas modificações em 12 das 46 questões propostas, visando melhor compreensão pelos pacientes. Houve equivalência entre esta adaptação e a posterior retrotradução. RESULTADOS: A forma final do questionário, aplicada em 97 pacientes com DRPAD (64F/33M, 35 ± 12 anos) acompanhados no Ambulatório de Rins Policísticos da Universidade Federal de São Paulo, mostrou que 65 (67 por cento) apresentavam dores isoladas ou associadas em várias localizações, mais frequentemente lombar (77 por cento), seguida de abdominal (66 por cento), cefaleia (15 por cento) e torácica (4 por cento). O questionário revelou que depois do antecedente familiar, a dor foi o segundo fator a contribuir para o diagnóstico de DRPAD nesta população (55 por cento e 22 por cento dos casos, respectivamente). DISCUSSÃO: Dados clínicos e laboratoriais dos prontuários médicos mostraram que pacientes com dor apresentavam volume renal e tamanho do maior cisto significantemente maiores do que os sem dor. CONCLUSÕES: Concluimos que a utilização de um questionário de dor especifico para população com DRPAD propiciou melhor caracterização deste sintoma, assim como sua relação com as complicações associadas que ocorrem comumente nesta população.

INTRODUCTION: Pain is a common symptom in patients with autosomal dominant polycystic kidney disease (ADPKD), affecting around 60 percent of cases. OBJECTIVE: Translate a pain questionnaire developed and validated for ADPKD in USA into Portuguese and to perform its cultural adaptation and apply it. METHOD: The cultural adaptation performed by a panel of experts resulted in small changes consisting of words substitution by synonyms or deletion of terms not commonly used in our culture in 12 out of the 46 questions posed, to solve patients difficulties in understanding the questionnaire. RESULTS: There has been equivalence between the adapted form of the instrument with the back-translation. The final form of the questionnaire applied in 97 patients with ADPKD (64F/33M, 35 ± 12 years) showed that 65 (67 percent) had isolated or associated pain in multiple locations , more often at lumbar region (77 percent), followed by abdominal (66 percent), headache (15 percent) and chest (4 percent). The questionnaire revealed that after family history, pain was the second factor contributing to the diagnosis of ADPKD in this population (55 percent and 22 percent of cases, respectively). DISCUSSION: Clinical and laboratory data from medical records showed that patients referring pain had renal volume and size of the largest cyst significantly higher than those without pain. CONCLUSION: We conclude that the use of a specific pain questionnaire for ADPKD population provided a better characterization of this symptom, as well as its relationship with the associated complications that commonly occur in this setting.

Associação entre aneurismas de aorta abdominal infrarrenal e doença renal policística autossômica dominante: relato de caso / Association between infrarenal abdominal aortic aneurysm and autosomal dominant polycystic kidney disease: a case report

A doença renal policística dominante é uma das doenças renais hereditárias mais comuns, podendo apresentar manifestações extrarrenais vasculares de importância clínica, como aneurismas intracranianos, aneurismas aórticos e dissecções arteriais. Relatamos o caso de um paciente masculino, com 66 anos de idade, renal crônico não-dialítico por doença renal policística dominante, com aneurisma de aorta abdominal infrarrenal assintomático, diagnosticado por ultrassonografia de rotina e operado eletivamente com sucesso. A doença renal policística dominante é uma síndrome genética, associada aos genes PDK1 e PDK2 no cromossomo 16. A expressão desses genes na parede dos vasos leva ao seu enfraquecimento, favorecendo a formação de aneurismas. A produção de metaloproteinases pelos túbulos renais também estaria relacionada às doenças vasculares desses pacientes. Tais doenças se apresentam como importantes fatores de mortalidade precoce e morbidade dos portadores de doença renal policística dominante e, como usualmente são assintomáticas, justifica-se o uso de propedêutica armada e tratamento precoce.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary renal diseases, which may present important clinical extrarenal vascular manifestations, such as intracranial and aortic aneurysms and artery dissections. We report the case of a 66-year-old male chronic renal out-of-dialysis patient, with dominant polycystic kidney disease, presenting an asymptomatic infrarenal abdominal aortic aneurysm diagnosed by routine ultrasonography, submitted to successful elective surgery. ADPKD is a genetic syndrome, associated with PDK1 and PDK2 genes on chromosome 16. The expression of these genes in the vessel walls leads to vessel wall weakening, favoring aneurysm formation. In addition, metalloproteinase production by kidney tubules could be related to vascular diseases in ADPKD patients. These are important factors of early mortality and of morbidity in patients with ADPKD, thus the use of equipped propedeutics and early treatment are indicated, as these manifestations are usually asymptomatic.

Autosomal Dominant Polycystic Kidney Disease: 2009 Update for Internists

Because autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic abnormalities seen in today's medical practice, many internists will likely treat patients affected by this condition. Genetic abnormalities have been increasingly recognized, and the pathophysiology of the disease is beginning to be unraveled. Because of advances in imaging technology, surrogate markers for disease progression have allowed clinical studies of newer therapeutic agents to proceed. In the near future, therapies for this common genetic disease may be available to either prevent or stabilize the disease course for many affected individuals.

Carcinoma de células transicionales en paciente con enfermedad poliquística renal autosómica dominante / Transitional cell carcinoma in a patient with autosomal dominant polycystic renal disease

Objetivo: Reportar un caso de una paciente con enfermedad poliquística renal autosómica dominante(EPRAD) asociada a la presencia de un carcinoma de células transicionales (CCT).Métodos: Paciente de 46 años de edad, con antecedentes de tabaquismo crónico. Se realiza el diagnóstico de EPRAD complicada con hematuria recurrente con origen en la unidad renal derecha. Resultados: Se realiza nefrectomía laparoscópica mano asistida con un tiempo operatorio de 1 hora25 minutos. El informe anatomopatológico de la pieza operatoria es compatible con carcinoma de CCT Grado 1 de Ash, correspondiendo a un estadio T1 N0 M0 de la Clasificación TNM de la AJCCUICCde 1997.Conclusión: Si bien la existencia de neoplasias renales en pacientes portadores de EPRAD constituye una entidad poco común, y que no presenta mayor incidencia que en la población general, debe considerarse como posibilidad diagnóstica en todos aquellos pacientes que evidencien síntomas o signos de complicación de su enfermedad poliquística, sobre todo en aquellos en los que se plantea la resolución quirúrgica de su patología.

Objetive: We report a patient with autosomal dominant polycystic renal disease (ADPRD) associated with transitional cell carcinoma (TCC).Methods: A 46 year old patient with history of chronic cigarette smoking was diagnosed of ADPRD with recurrent hematuria originated in the right renal unit. Results: A right hand-assisted laparoscopic nephrectomy was performed. Operative time was 85minutes. Pathological analysis showed a Grade 1 TCC, pT1 N0 M0.Conclusions: Renal neoplasias in ADPRD patients are infrequent baring the same incidence as normal patients. However, in symptomatic ADPRD patients, renal neoplasias should be kept in mind, especially if patients are to undergo surgery.

Isolated polycystic liver disease--a rare entity: report of a case.

A 45-year-old woman presented with a mass in the right hypochondrium and shortness of breath. The mass was felt up to 4.5 inches below the right costal margin and its dullness on percussion was continuous with liver dullness. Ultrasonography (USG) of abdomen revealed enlargement of the left lobe of the liver with multiple cysts of varying sizes. Left liver lobectomy was done, histology of which showed multiple cysts lined by cuboidal to columnar epithelium. A small amount amount of normal liver parenchyma between the cysts was observed. A diagnosis of Adult polycystic liver disease (APLD) was given.

Aneurisma gigante do segmento intracavernoso da carótida interna associado a doença renal policística autossômica dominante: relato de caso / Giant aneurysm of the intracavernous internal carotid artery associated with autosomal dominant polycystic kidney disease: case report

Apresenta-se o caso de mulher de 60 anos com doença renal policística autossômica dominante (DRPAD) que desenvolveu quadro de cefaléia e oftalmoplegia completa à direita. A TC levantou a hipótese de um aneurisma gigante do segmento intracavernoso da carótida interna direita, o que foi confirmado pela arteriografia. Realizou-se, então, tratamento endovascular por oclusão do vaso parental com molas destacáveis no segmento supraclinóideo. A paciente evoluiu com a interrupção da cefaléia e com redução parcial da ptose e da oftalmoplegia. Neste artigo, enfatiza-se a relação entre DRPAD e aneurismas intracranianos. Comenta-se a história natural dos aneurismas originados no segmento intracavernoso da artéria carótida interna e comparam-se as opções terapêuticas no manejo destas lesões.

We report the case of a 60 years-old woman with autosomal dominant polycystic kidney disease (ADPKD) that presented with headache and right complete ophthalmoplegia. The CT scan raised the possibility of a giant aneurysm of the right intracavernous internal carotid artery, confirmed by angiography. The patient underwent endovascular occlusion of parent vessel with detachable coils, then she presented interruption of headache and partial recovery of ptosis and ophthalmoplegia. We emphasize the relationship between ADPKD and intracranial aneurysms. We also discuss the natural history and compare the therapeutic options for the management of giant aneurysms of the cavernous portion of the carotid artery.

Fístula biliobronquial, una rara complicación de PKD-1 / Bronchiobiliary fistula: a rare complication of PKD-1

La enfermedad renal poliquística autosómica dominante (PKD-1) es la nefropatía hereditaria más frecuente y constituye una causa importante de insuficiencia renal crónica terminal. La fístula biliobronquial resulta una rara complicación secundaria a infecciones como Equinococcus granuloso y amebiasis, traumas y enfermedad maligna. Se manifiesta frecuentemente con expectoración de bilis (biliptisis) y síntomas respiratorios. Se presenta una paciente de 65 años de edad, de la raza blanca, con PKD-1 e insuficiencia renal crónica, con síntomas respiratorios y biliptisis secundaria a una fístula biliobronquial. Se confirmó el diagnóstico con la demostración del trayecto fistuloso en el parénquima hepático y la presencia de bilis en el parénquima pulmonar por la tinción de Fouchet. Se concluye que PKD-1 es una rara causa de fístula biliobronquial y un diagnóstico que se debe sumar a las ya conocidas causas de esta complicación

Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis), and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 ± 14.9 years, and mean serum creatinine at referral was 2.4 ± 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3 percent), lumbar pain (55.4 percent), an abdominal mass (47.8 percent), and urinary infection (35.8 percent). Loss of renal function occurred in 27 patients (mean age: 45.4 ± 9.5 years). The liver was the second organ most frequently affected (39.1 percent). Stroke occurred in 7.6 percent of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14 percent.

Autosomal dominant polycystic kidney disease and pain - a review of the disease from aetiology, evaluation, past surgical treatment options to current practice.

Autosomal Dominant Polycystic Kidney Disease (ADPKD), often referred to as "adult" polycystic kidney disease, is one of the commonest hereditary disorders. It affects approximately 4 to 6 million individuals worldwide. The disease progresses to end-stage renal disease and it accounts for 10-15% of patients requiring dialysis in the United States. A comprehensive Medline search for aetiology, evaluation, screening, cellular biology, and treatment was utilized to locate, extract, and synthesize relevant data with respect to this topic. Special attention was focused on urologic literature and surgical textbooks regarding operative treatment of pain associated with ADPKD. Now, patients with ADPKD have more treatment options. More specifically, several therapeutic alternatives are now available for the management of pain in these patients. A recent review of literature supports the performance of open or laparoscopic cyst decortication procedures for control of pain and infection without the worry of causing further renal impairment in those with preserved renal function.

Adult polycystic liver disease presenting as portal hypertension.

Autosomal dominant polycystic liver disease is a systemic hereditary disorder associated with cyst formation in the ductal organs such as the kidney and liver. Multiple massive cysts are typically found in multiparous women. Portal hypertension as a presenting manifestation is very rare but may be caused by associated hepatic fibrosis or massive hepatic replacement of liver by the cysts. Two cases of adult polycystic liver disease, one in uniparous female and another in a 45-year-old male, both presenting with portal hypertension and without any demonstrable fibrosis in the liver, are reported here.

Angiotensinogen and Angiotensin II Type 1 Receptor Gene Polymorphism in Patients with Autosomal Dominant Polycystic Kidney Disease: Effect on Hypertension and ESRD

Autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease, is characterized by the development of hypertension and end stage renal disease. An increase in the activity of the renin-angiotensin system, due to a renal ischemia caused by cyst expansion, contributes to the development of hypertension and renal failure in ADPKD. Recently, the angiotensinogen (AGT) gene, M235T, and angiotensin II type 1 receptor (ATR) gene, A1166C, polymorphisms have been associated with the susceptibility to develop hypertension and renal disease. We hypothesized that the AGT M235T and ATR A1166C polymorphisms could account for some of the variability in the progression of ADPKD. Genotyping was performed in 108 adult patients with ADPKD, and 105 normotensive healthy controls, using PCR and restriction digestion. We analyzed the effects of the AGT M235T and ATR A1166C polymorphisms on hypertension and age at the end stage renal disease (ESRD). Of the 108 patients with ADPKD, 64 (59%) had hypertension and 24 (22%) reached the ESRD. The prevalence of hypertension were; [MM+MT], [TT] genotypes, 60%, 59% (p=1.00) ; [AA], [AC+CC] genotypes, 60%, 50% respectively (p=0.54). The ages at the onset of ESRD were; [MM+MT], [TT] genotypes, 50 +/- 9 years, 56 +/- 8 years (p=0.07) ; [AA], [AC+CC] genotypes, 54 +/- 8 years, 52 +/- 14 years, respectively (p=0.07). There were no differences in the prevalence of hypertension and the ages at the ESRD in relation to the AGT M235T and ATR A1166C polymorphisms. We suggest that the AGT and ATR gene polymorphisms would not have an effect on hypertension or the ESRD in ADPKD.

Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease

Renin-angiotensin system is considered important in the genesis of hypertension and development of end-stage renal disease (ESRD) in autosomal dominant polycystic kidney disease (ADPKD). The angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been associated with susceptibility to the development of some renal diseases. We investigated the association of ACE gene polymorphism with the progression to hypertension and ESRD in 108 patients with ADPKD. The ACE I/D polymorphism was amplified with the flanking primers by polymerase chain reaction. In patients genotyped for ACE gene polymorphism, the frequencies of DD (15+ACU-), ID (51+ACU-) and II (34+ACU-) genotypes were similar to those of the general population. Of the 108 patients, 64 (59+ACU-) developed hypertension and 24 (22+ACU-) reached ESRD at the time of study. The prevalence of hypertension was not significantly different among the three genotypes. The mean renal survival time was 53-6 yr in II genotype, 5510 yr in ID genotype and 529 yr in DD genotype which was not significantly different among them. Cumulative renal survival was not significantly different either. There was no association of ACE gene polymorphism with the prevalence of hypertension and renal survival in ADPKD. We suggest that ACE I/D polymorphism is not an important modifying gene in the progression of ADPKD.

Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease

Renin-angiotensin system is considered important in the genesis of hypertension and development of end-stage renal disease (ESRD) in autosomal dominant polycystic kidney disease (ADPKD). The angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been associated with susceptibility to the development of some renal diseases. We investigated the association of ACE gene polymorphism with the progression to hypertension and ESRD in 108 patients with ADPKD. The ACE I/D polymorphism was amplified with the flanking primers by polymerase chain reaction. In patients genotyped for ACE gene polymorphism, the frequencies of DD (15+ACU-), ID (51+ACU-) and II (34+ACU-) genotypes were similar to those of the general population. Of the 108 patients, 64 (59+ACU-) developed hypertension and 24 (22+ACU-) reached ESRD at the time of study. The prevalence of hypertension was not significantly different among the three genotypes. The mean renal survival time was 53-6 yr in II genotype, 5510 yr in ID genotype and 529 yr in DD genotype which was not significantly different among them. Cumulative renal survival was not significantly different either. There was no association of ACE gene polymorphism with the prevalence of hypertension and renal survival in ADPKD. We suggest that ACE I/D polymorphism is not an important modifying gene in the progression of ADPKD.

Ileo-ileo-colic intussusception secondary to an ileal lipoma.

Adult intussusception is extremely uncommon and constitutes approximately 5-16% of all intussusceptions. We describe a case of ileo-ileo-colic intussusception secondary to an ileal lipoma occurring in a 22 year old man who in addition had autosomal dominant polycystic kidney disease. CT scan played a pivotal role in not only demonstrating the cause of intestinal obstruction (intussusception) but also showed that a lipoma was the lead point precipitating the intussusception.

Extrarenal manifestations of autosomal dominant polycystic kidney disease

Recently, with the widespread use of new imaging techniques, the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is increasing. To analyze the extrarenal manifestations of ADPKD in Korean patients, we retrospectively studied the clinical characteristics of 30 patients with ADPKD. Thirty Patients with ADPKD who had been diagnosed at Yongdong Severance Hospital from 1988 through 1994 were recruited for this study. All patients' past and family histories were re-evaluated, and charts and radiologic images were reviewed retrospectively. The male to female ratio was 9:21, and the age of initial diagnosis was 39.2 +/- 13.8 (mean +/- SD) years. In 15 cases (50%), ADPKD had been diagnosed by renal symptoms; in 8 cases (26.7%), by chance during evaluation of extrarenal diseases; in 5 cases (16.7%), by family screening; and in 2 cases (6.7%), by uremic symptoms. Extrarenal involvement included hepatic cysts (70%), pancreatic cysts (16.7%), splenic cysts (6.7%), thyroid cysts (6.7%), inguinal hernia (3.3%), and colonic diverticula (3.3%). In 5 cases (16.7%), cardiac valvular abnormalities were noted by echocardiography. Seven patients underwent hemodialysis, and the duration from the initial diagnosis to initiation of dialysis was 9.9 +/- 8.5 (mean +/- SD) years. We investigated the extrarenal manifestations of 30 cases of ADPKD in Koreans, which were also common and clinically important as renal manifestations. Renal cysts are only one of a myriad of renal and extrarenal manifestations of ADPKD. ADPKD should be managed systematically since this disorder is a systemic disease with clinically important involvement of the cardiovascular system, the gastrointestinal tract, the genitourinary system, and the musculoskeletal system.