Association between renal cysts and abdominal aortic aneurysm: A case-control study / Associação entre cistos renais e aneurismas da aorta abdominal: Um estudo de caso-controle

Summary Objective: To investigate the positive association between the presence of simple renal cysts (SRCs) and abdominal aortic aneurysm (AAA). Method: In a retrospective case-control study including subjects aged > 50 years, we evaluated the incidence of SRCs on computed tomography (CT) scan. We compared 91 consecutive patients with AAA referred from the Division of Vascular Surgery and 396 patients without AAA, randomly selected after being matched by age and gender from 3,186 consecutive patients who underwent abdominal CT. SRC was defined as a round or oval low-attenuation lesion with a thin wall and size > 4 mm on CT without obvious evidence of radiographic enhancement or septations. Patients were considered as having AAA if the size of aorta was greater than 3.0 cm. Results: Patients with AAA and without AAA were similar in terms of age (67.9± 8.41 vs. 68.5±9.13 years) (p=0.889) and gender (71.4 vs. 71.2% of male subjects, respectively) (p=0.999). There was no difference in the prevalence of SRC between case and controls. Among individuals with AAA, 38 (41.8%; [95CI 32.5-52.6]) had renal cysts compared to 148 (37.4%; [95CI 32.7-42.2]) in the control group (p=0.473), with a prevalence ratio (PR) of 1.16 (95CI 0.80-1.68). Conclusion: We found no significant differences in the prevalence of SRCs among patients with AAA and controls. Our findings suggest that the presence of SRCs is not a risk factor or a marker for AAA.

Resumo Objetivo: Avaliar uma possível associação entre presença de cistos renais simples (CRS) e aneurisma aórtico abdominal (AAA). Método: Em um estudo de caso versus controle com sujeitos com idade > 50 anos, avaliamos a prevalência de CRS detectados por tomografia computadorizada (TC). Comparamos os achados de 91 pacientes consecutivos com AAA oriundos da Divisão de Cirurgia Vascular com 396 pacientes sem AAA, randomicamente selecionados e ajustados por idade e gênero dentre 3.186 pacientes consecutivos que se submeteram a TC abdominal. Cisto simples foi definido como lesão hipodensa oval ou arredondada com paredes finas, maiores do que 4 mm em TC sem realce contrastual ou septação. Pacientes foram considerados com AAA quando o diâmetro da aorta era maior que 3,0 cm. Resultados: Pacientes com AAA e sem AAA eram semelhantes quanto a idade (67,9±8,41 vs. 68,5±9,13 anos) (p=0,889) e gênero (71,4 vs. 71,2% dos indivíduos masculinos, respectivamente) (p=0,999). Não havia diferença de prevalência de CRS entre casos e controles. Dentre indivíduos com AAA, 38 (41,8%; [IC95% 32,5-52,6]) tinham cistos renais, comparados com 148 (37,4%; [IC95% 32,7-42,2]) no grupo controle (p=0,473), com uma razão de prevalência (RP) de 1,16 (IC95% 0,80-1,68). Conclusão: Não observamos diferenças significativas na prevalência de CRS entre pacientes com AAA e controles. Nossos resultados sugerem que presença de CRS não é fator de risco ou preditor para AAA.

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso / Language, behavior and neurodevelopment in Joubert syndrome: a case report

RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.

Safety and feasibility of radiofrequency ablation for treatment of Bosniak IV renal cysts

ABSTRACT Purpose To describe our initial experience with radiofrequency ablation (RFA) of Bosniak IV renal cysts. Materials and Methods From 2010 to 2014, 154 renal tumor cases were treated with percutaneous thermal ablation, of which 10 cases (6.4%) from nine patients were complex renal cysts and were treated with radiofrequency ablation. Results All complex cysts were classified as Bosniak IV (four women and five men; mean age: 63.6 yrs, range: 33–83 years). One patient had a single kidney. Lesion size ranged from 1.5 to 4.1cm (mean: 2.5cm) and biopsy was performed on four cysts immediately before the procedure, all of which were malignant (two clear cell and two papillary carcinoma). Mean volume reduction of complex cysts was 25% (range: 10–40%). No patients required retreatment with RFA and no immediate or late complications were observed. The follow-up of Bosniak IV cysts had a median of 27 months (interquartile range [IQR], 23 to 38) and no recurrence or significant loss of renal function were observed. Conclusions Mid-term follow-up of the cases in our database suggests that image-guided percutaneous RFA can treat Bosniak IV cysts with very low complication rates and satisfactorily maintain renal function.

CT-Guided Sclerotherapy for Simple Renal Cysts: Value of Ethanol Concentration Monitoring

OBJECTIVE: The aim of our study was to evaluate the differences between sclerotherapy with and without ethanol concentration monitoring for the treatment of simple renal cysts. MATERIALS AND METHODS: Sixty-seven patients with 70 simple renal cysts were randomly assigned to two groups in a 12-month prospective controlled trial. One group (group A) was treated with computed tomography (CT)-guided sclerotherapy without ethanol concentration monitoring (33 patients with 35 cysts), whereas the other group (group B) had ethanol concentration monitoring (34 patients with 35 cysts) during the procedure. Treatment outcomes between the two groups were compared 12 months later with follow-up ultrasound examination. RESULTS: After the 12-month follow-up period, the overall success rate was 74.3% in group A and 94.3% in group B (p = 0.022). The mean cyst size before and after treatment was 8.6 +/- 2.0 cm and 2.3 +/- 2.9 cm, respectively, in group A, and 8.4 +/- 1.7 cm and 0.8 +/- 1.9 cm, respectively, in group B. The final size of the cysts in group B was significantly smaller than that in group A (p = 0.015). The likelihood of treatment with ethanol concentration monitoring being successful was approximately 16 times higher than without ethanol concentration monitoring (p = 0.026; odds ratio = 15.7; 95% confidence interval: 1.38-179.49). There were no major complications in either group. CONCLUSION: Monitoring of Hounsfield units (HU) of ethanol by CT is an effective method in the treatment of simple renal cysts with ethanol sclerotherapy. The ethanol sclerotherapy procedure can be terminated at the point of clear fluid aspiration because the HU (-190) of CT scan corresponds to it.

Caso clínico-radiológico: lesión quística compleja renal / Renal complex cyst lesion

Con el aumento en el número de los exámenes imaginológicos que se realizan en la actualidad, se detecta con mayor frecuencia la presencia de quistes renales. Éstos pueden ser simples o complejos, teniendo estos últimos un mayor riesgo de corresponder a una neoplasia. Se presenta el caso de un paciente de 66 años con Diabetes Mellitus tipo II y quistes renales bilaterales, que en un control ultrasonográfico se detecta una lesión nodular hiperecogénica en el polo superior del riñón derecho. A la Resonancia Magnética la lesión corresponde a un quiste complejo con un componente nodular que refuerza postcontraste, compatible con una lesión Bosniak IV. Se presenta la clasificación Bosniak que divide las lesiones quísticas en quirúrgicas y no quirúrgicas. Esta clasificación es válida para Tomografía Computada y Resonancia Magnética, y no para Ultrasonido.

With the increase in cross-sectional examinations, there is an increase in detection of renal cysts. They can be simple or complex, the latter having an elevated risk of malignancy. The case of a 66 year old male with type II Diabetes Mellitus and multiple renal cysts, who had a follow-up Ultrasound, where a hyperechoic nodular lesion was detected in the upper pole of the right kidney. At Magnetic Resonance the lesion is a complex cyst with an enhancing nodular component, compatible with a Bosniak IV lesion. The Bosniak classification is presented, that divides renal cysts in surgical or non surgical. This classification is valid for Computed Tomography and Magnetic Resonance, and not for Ultrasound.

Quiste renal complejo: caso difícil de diagnosticar / Complex renal cyst: a difficult case to diagnose

Se presenta un nuevo caso de un quiste renal complejo que acude a nuestro centro. La paciente tiene 59 años y hace poco tiempo presenta un dolor lumbar izquierdo mantenido, sordo y gravativo; al examen físico se palpa una tumoración en el hipocondrio y flanco izquierdo. Esta entidad no es rara, pero es difícil de diagnosticar pues en múltiples estudios las imágenes complejas indican una posible afectación tumoral maligna y sólo la exploración quirúrgica define el diagnóstico real. Se describen las características de los quistes renales simples y complejos detallando cómo se realiza el diagnóstico imagenológico de estos casos y la conducta que se sigue en dependencia del grado de complejidad del quiste. Se compara la información encontrada en la literatura médica y la experiencia con esta paciente. Se revisa la literatura encontrada sobre el tema y se comenta la problemática en torno al diagnóstico y a las posibilidades terapéuticas(AU)

This is the case of a female patient coming to our center presenting with a complex renal cyst. The patient is aged 59 and a short history of a sustained, dull and severe left lumbar pain; at physical examination a hypochondrium tumor in left flank is palpated. This entity is frequent, but is difficult to diagnose since in multiple studies complex images show possible malign tumor affection, and only the surgical exploration defines the true diagnosis. Features of the simple and complex renal cysts with details on performing of imaging diagnosis of these cases and the behavior followed according the complexity degree of cyst. Information present in medical literature is compared with experience of this patient. Literature on this matter is reviewed and problems around the diagnosis and the therapeutical possibilities are discussed(AU)

Benign multilocular cyst

Benign multilocular cyst is a rare benign multicystic renal tumor. It usually involves the kidneys unilaterally. There is no generally accepted theory concerning its pathogenesis. The usual clinical presentation is an asymptomatic abdominal mass in children and nonspecific symptoms such as abdominal pain, hematuria, and urinary tract infection in adults. This report presents a case of benign multilocular cyst in an 18-months-old boy admitted with abdominal distension and a palpable mass in his right loin. The patient underwent right total nephrectomy, and histological findings were compatible with benign multilocular cyst

Enfermedad quística renal en la edad pediátrica / Kidney cystic disease in pediatric age

Cystic diseases of the kidney include a width range of pathologies, representing a diagnostic challenge for both clinician and radiologist. There are a many classifications for these pathologies, which can confuse the images interpretation. With emphasis in diagnosis images, with the ultrasound as the most important, the main characteristics of the most frequent cystic renal diseases are reviewed: autosomal recessive and dominant polycystic kidney disease, glomerulocystic kidneys, tuberous sclerosis, juvenile nephronophthisis, sponge kidney, simple cysts, multicystic dysplastic kidney, cystic dysplastic kidney, multilocular cystic renal tumor and acquired cystic kidney disease.

Las enfermedades quísticas renales incluyen una variada gama de patologías y representan un desafío diagnóstico tanto para el clínico como para el radiólogo. Existen diversas clasificaciones, que puede crear confusión en la interpretación de las imágenes. Con especial énfasis en el diagnóstico por imágenes, donde el ultrasonido juega un rol preponderante, se revisan las principales características de las entidades más frecuentes: enfermedad renal poliquística autosómica recesiva y dominante, enfermedad renal glomeruloquística, esclerosis tuberosa, nefronoptisis juvenil, riñon en esponja medular, quistes simples, riñon displásico multiquístico, displasia renal quística, tumor renal quístico multilocular y enfermedad renal quística adquirida.

Effect of Thin Overlapping Reconstruction on the Attenuation of Small (< or = 3 cm) Renal Cysts in the Nephrographic Phase of MDCT: a Phantom Study

OBJECTIVE: To evaluate the effect of thin overlapping reconstruction on the attenuation of small (< or = 3 cm) renal cysts in the nephrographic phase of multidetector CT (MDCT). MATERIALS AND METHODS: We scanned a phantom kidney containing spheres of various sizes (10, 20, and 30 mm) using both 4- and 16-channel MDCT scanners, and reconstructed images with various slice thickness (T, mm) and intervals (I, mm). The attenuation increase (AI) was measured for each sphere in 240-HU diluted solution of contrast material and compared with the attenuation in 35-HU solution. RESULTS: On the 4-channel MDCT, thin overlapping reconstruction (T/I = 3/1, compared with 5/5) lowered the AI as much as 17 HU in the 10 mm-sphere and 6 HU in the 20 mm-sphere (p < 0.05). Thin slicing alone was also effective; however overlapping alone was not. On the 16-channel MDCT, AI in the 10 mm-sphere was significantly lower than on the 4-channel MDCT with T/I = 5/5 (p < 0.05), however thinner slicing or overlapping did not affect the attenuation significantly in all of the spheres. CONCLUSION: The effect of thin overlapping reconstruction on minimizing falsely elevated attenuation in the nephrographic phase was significant only in cysts < or =20 mm on the 4-channel MDCT.

Sonographic prevalence of acquired cystic renal disease in patients receiving haemodialysis

To determine the sonographic prevalence of Acquired Cystic Renal Disease [ACRD] in patients on maintenance haemodialysis and its relationship to the duration on dialysis. All patients with end stage renal disease [ESRD] who were receiving maintenance haemodialysis in Urology Department of Mayo Hospital Lahore between November 1997 to February 1998 were screened by ultrasound for the prevalence of ACRD. Forty patients with ESRD on maintenance haemodialysis were evaluated. The mean age of patients was 39.9 years. The male to female ratio was 2.3:1. Four patients [10%] had documented ACRD. The proportion of patients with ACRD increased with increasing duration of dialysis; ACRD was found in 60% of patients who had dialysis for more than 3 years, 20% in those who had been dialyzed for 1-3 years, and no patient developed ACRD who was on dialysis for less than one year. All patients remained asymptomatic except one, who had intermittent macroscopic haematuria. There was no evidence of neoplasm in any of these patients on clinical grounds or on ultrasound. We found a low prevalence of ACRD in the population studied compared to previously published series. This can be explained by the fact that most of our patients were on dialysis for less than one year. A further study is suggested with greater numbers in a center where patient stay on dialysis for longer period and patient turnover is low

CT and US Findings of Multilocular Cystic Renal Cell Carcinoma

OBJECTIVE: Multilocular cystic renal cell carcinoma (MCRCC) is a recently described variety of renal cell carcinoma with characteristic pathologic and clinical features. The purpose of this study was to analyze the imaging findings of MCRCCs. MATERIALS AND METHODS: Ten adult patients with pathologically proven unilateral MCRCC who underwent renal US and CT were included in this study. The radiologic findings were retrospectively evaluated for cystic content, wall, septum, nodularity, calcification and solid portion by three radiologists who established a consensus. Imaging and postnephrectomy pathologic findings were compared. RESULTS: All patients were adults (six males and four females) and their ages ranged from 33 to 68 years (mean, 46). On US and CT images, all tumors appeared as well-defined multilocular cystic masses composed of serous or complicated fluid. In all patients, unenhanced CT scans revealed hypodense cystic portions, and in four tumors, due to the presence of hemorrhage or gelatinous fluid, some hyperdense areas were also noted. In no tumor was an expansile solid nodule seen in the thin septa, and in only one was there dystrophic calcification in a septum. Small areas of solid portion constituting less than 10% of the entire lesion were found in six of the ten tumors, and these areas were slightly enhanced on enhanced CT scans. In all patients, imaging and pathologic findings correlated closely. CONCLUSION: On US and CT images, MCRCC appeared as a well-defined multilocular cystic mass with serous, proteinaceous or hemorrhagic fluid, with no expansile solid nodules in the thin septa, and sometimes with small slightly enhanced solid areas. Where radiologic examinations demonstrate a cystic renal mass of this kind in adult males, MCRCC should be included in the differential diagnosis.

CT and US Findings of Multilocular Cystic Renal Cell Carcinoma

OBJECTIVE: Multilocular cystic renal cell carcinoma (MCRCC) is a recently described variety of renal cell carcinoma with characteristic pathologic and clinical features. The purpose of this study was to analyze the imaging findings of MCRCCs. MATERIALS AND METHODS: Ten adult patients with pathologically proven unilateral MCRCC who underwent renal US and CT were included in this study. The radiologic findings were retrospectively evaluated for cystic content, wall, septum, nodularity, calcification and solid portion by three radiologists who established a consensus. Imaging and postnephrectomy pathologic findings were compared. RESULTS: All patients were adults (six males and four females) and their ages ranged from 33 to 68 years (mean, 46). On US and CT images, all tumors appeared as well-defined multilocular cystic masses composed of serous or complicated fluid. In all patients, unenhanced CT scans revealed hypodense cystic portions, and in four tumors, due to the presence of hemorrhage or gelatinous fluid, some hyperdense areas were also noted. In no tumor was an expansile solid nodule seen in the thin septa, and in only one was there dystrophic calcification in a septum. Small areas of solid portion constituting less than 10% of the entire lesion were found in six of the ten tumors, and these areas were slightly enhanced on enhanced CT scans. In all patients, imaging and pathologic findings correlated closely. CONCLUSION: On US and CT images, MCRCC appeared as a well-defined multilocular cystic mass with serous, proteinaceous or hemorrhagic fluid, with no expansile solid nodules in the thin septa, and sometimes with small slightly enhanced solid areas. Where radiologic examinations demonstrate a cystic renal mass of this kind in adult males, MCRCC should be included in the differential diagnosis.