Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease / Tratamento endovascular de sangramentos e angiomiolipomas de aneurismas intrarrenais em um paciente com esclerose tuberosa e doença renal policística

Abstract Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are conditions related to renal failure that can rarely occur in association as a contiguous gene syndrome. Angiomyolipomas (AMLs) are renal tumors strongly related to TSC that may rupture and cause life-threatening bleedings. We present a patient with TSC, ADPKD, and renal AMLs with persistent hematuria requiring blood transfusion. The persistent hematuria was successfully treated through endovascular embolization, a minimally invasive nephron sparing technique.

Resumo O complexo de esclerose tuberosa (CET) e a doença renal policística autossômica dominante (DRPAD) são condições relacionadas à insuficiência renal que raramente podem ocorrer em associação como uma síndrome do gene contíguo. Angiomiolipomas (AMLs) são tumores renais fortemente relacionados ao CET que podem romper-se e causar hemorragias com risco de vida. Apresentamos um paciente com CET, DRPAD e AMLs renais com hematúria persistente que requer transfusão sanguínea. A hematúria persistente foi tratada com sucesso por meio de embolização endovascular, uma técnica de preservação do néfron minimamente invasiva.

Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

Asociación VACTERL con poliquistosis renal en un recién nacido: reporte de caso

Las malformaciones son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países, y ocasionan 3,2 millones de discapacidades al año. La asociación VACTERL involucra defectos vertebrales, atresia anal, fístula traqueoesofágica y displasia renal, así como anormalidades en las extremidades. Nuestro objetivo es describir las características generales de la asociación VACTERL y realizar un acercamiento a otros casos en la literatura. Nuestro caso trata de una recién nacida a las 35 semanas con grave dificultad respiratoria, que ingresa a la UCI neonatal por descompensación hemodinámica. Tiene un antecedente de poliquistosis renal bilateral a las 25 semanas dado por ecografía. En el examen físico se evidencia agenesia de órganos sexuales y ano imperforado, y en la radiografía se observa patrón atelectásico, cardiomegalia y posición dextrógira de la silueta cardiaca. La paciente fue diagnosticada con asociación VACTERL y ano imperforado. Sufrió un paro respiratorio y falleció luego de dos días.

Malformations are important causes of infant mortality, chronic disease and disability in many countries, causing 3.2 million disabilities per year. The VATERL association includes vertebral defects, anal atresia, tracheoesophageal fistula and renal dysplasia, as well as limb abnormalities. This case report aims to provide the general characteristics of the VACTERL association and discuss other cases found in the medical literature. This is the case of a female newborn delivered at 35 weeks of pregnancy with severe respiratory distress, who was admitted to the neonatal ICU due to hemodynamic decompensation. She had a history of bilateral polycystic kidney disease found by ultrasound at 25 weeks of pregnancy. A physical examination showed vaginal agenesis and imperforate anus. Atelectasis, cardiomegaly and dextroposition of the cardiac silhouette were observed in a radiography. The patient was diagnosed with VACTERL association and imperforate anus. She died 2 days after a respiratory arrest.

Application of low field magnetic resonance imaging technique in measuring kidney volume of polycystic kidney disease rats in vivo / 第二军医大学学报

Objective To measure the renal volume of polycystic kidney disease rats using low field magnetic resonance imaging (MRI), and to explore its application value in the basic research of polycystic kidney disease. Methods Fifteen Han: SPRD rats with polycystic kidney disease of different ages were subjected to anesthesia, and the kidney volume was measured using low field MRI. The kidney profile was delineated by engineers and clinicians. The imaging method was T1-weighted imaging. The cross section of the kidney was imaged, and the kidney volume was calculated using image processing software. Pearson correlation analysis was used to analyze the correlation between the kidney volume measured by MRI and anatomical volume after dissection, kidney mass, the ratio of kidney mass to body mass, renal function indexes and cyst index. Results The kidney of Han: SPRD rats was clearly observed with low field MRI. The kidney volumes of 15 rats measured by MRI were 1.51, 1.77, 3.54, 6.45, 9.34, 9.38, 3.72, 9.51, 4.95, 5.31, 6.47, 7.01, 5.39, 5.08, and 7.31 cm3, respectively. The anatomical volumes after dissection were 1.50, 1.70, 2.90, 5.00, 7.00, 7.02, 2.50, 7.10, 4.70, 4.90, 6.50, 6.70, 4.20, 4.90, and 7.00 cm3, respectively. The renal volume measured by MRI was highly correlated with the anatomical volume after dissection, kidney mass and the ratio of kidney mass to body mass (goodness of fit [R2] was 0.903 1, 0.912 8 and 0.777 9, respectively), and was also positively correlated with serum creatinine, urea nitrogen and cyst index (correlation coefficients were 0.86, 0.85 and 0.61, respectively). Conclusion Low field MRI can be used to measure kidney volume of polycystic kidney disease rat models in vivo, providing a reference for the basic research of polycystic kidney disease.

Fibrose hepática congênita e venopatia portal obliterativa sem hipertensão portal - revisão da literatura com base em um caso assintomático / Congenital hepatic fibrosis and obliterative portal venopathy without portal hypertension - a review of literature based on an asymptomatic case

ABSTRACT The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses. Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. It is a cholangiopathy, characterized by varying degrees of periportal fibrosis and irregular proliferation of bile ducts. Affected patients are typically diagnosed in childhood, but in some cases the disease may remain asymptomatic for many years. The exact prevalence and incidence of the disease are not known, but it is consider a rare disease, with a few hundred cases described worldwide. It can affect all ethnic groups and occur associated with various hereditary and non-hereditary disorders. The clinical presentation is quite variable, with melena and hematemesis being initial symptoms in 30%-70% of the cases. More rarely, they may present episodes of cholangitis. The disease has been classified into four types: portal hypertension, cholestasis / cholangitis, mixed and latent. Diagnosis begins with imaging tests, but the definition is made by the histopathological sample. So far, there is no specific therapy that can stop or reverse the pathological process. Currently, the therapeutic strategy is to treat the complications of the disease.

RESUMO A patologia e o caso aqui reportados são relevantes especialmente devido sua variada apresentação clínica, possibilidade de estar associada com outras desordens acometendo diversos órgãos e pelos possíveis diagnósticos diferenciais. A fibrose hepática congênita é uma doença autossômica recessiva, devido mutação no gene PKHD1, que codifica a proteína fibrocistina/poliductina. É uma colangiopatia, caracterizada por variados graus de fibrose periportal e proliferação irregular de ductos biliares. Os pacientes acometidos são tipicamente diagnosticados na infância, mas em alguns casos a doença pode permanecer assintomática por muitos anos. Exatas prevalência e incidência da doença não são conhecidas, mas sabe-se que é uma doença bastante rara, com algumas centenas de casos descritos no mundo. Pode afetar todos grupos étnicos e ocorrer associada com diversas desordens hereditárias e não-hereditárias. A apresentação clínica é bastante variável, com melena e hematêmese sendo sintomas iniciais em 30%-70% dos casos. Mais raramente, podem apresentar episódios de colangite. A doença tem sido classificada em quatro tipos: hipertensão portal, colestática/colangite, mista e latente. O diagnóstico inicia com exames de imagem, mas a definição é feita pela amostra histopatológica. Até o momento, não há terapia específica que possa parar ou reverter o processo patológico e a estratégia terapêutica atual é tratar as complicações da doença.

Actualización en enfermedad renal poliquística / Update on polycystic kidney disease

Resumen Introducción. La enfermedad renal poliquística (PKD, por su sigla en inglés) es una enfermedad genética frecuente en la que se desarrollan de forma progresiva lesiones quísticas que reemplazan el parénquima renal. Es una causa de insuficiencia renal terminal y una indicación común para diálisis y trasplante renal. Existen dos presentaciones de PKD que se distinguen por sus patrones de herencia: la enfermedad renal poliquística dominante (ADPKD, por su sigla en inglés) y la enfermedad renal poliquística recesiva (ARPKD, por su sigla en inglés). Objetivo. Resumir los aspectos más relevantes de la enfermedad renal: epidemiología, fisiopatología, diagnóstico, manifestaciones clínicas, tratamiento y pronóstico. Materiales y métodos. Revisión sistemática de la literatura en las bases de datos PubMed, Lilacs, UptoDate y Medline con los siguientes términos: enfermedades renales poliquísticas, riñón poliquístico autosómico dominante y riñón poliquístico autosómico recesivo. Resultados. Se encontraron 271 artículos y se escogieron 64 con base en su importancia. Conclusiones. Todo paciente con enfermedad renal poliquística en insuficiencia renal grado V debe ser estudiado para un trasplante renal; en la mayoría de los casos no se encontrará contraindicación para realizarlo.

Abstract Introduction: Polycystic kidney disease (PKD) is a common genetic disease in which cystic lesions develop and progressively replace the renal parenchyma. This is a cause of end-stage kidney disease and a common indication for dialysis and kidney transplantation. These disease presents in two forms, which can be differentiated by their inheritance patterns: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). Objective: To present a brief account of the most relevant aspects of kidney disease: epidemiology, pathophysiology, diagnosis, clinical manifestations, treatment and prognosis. Materials and methods: Systematic literature review conducted in the PubMed, Lilacs, UptoDate and Medline databases with the following terms: polycystic kidney diseases, autosomal dominant polycystic kidney and autosomal recessive polycystic kidney. Results: 271 articles were found and 64 were chosen based on their relevance. Conclusions: All autosomal polycystic kidney disease patients with stage 5 chronic kidney disease should be considered for transplantation, since it is not contraindicated in most cases.

Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report

Compressive femoral neuropathy is a disabling condition accompanied by difficulty in hip flexion and knee extension. It may result from retroperitoneal hematoma or bleeding, or from complications associated with pelvic, hip surgery, and renal transplants. A 55-year-old female with autosomal dominant polycystic kidney disease presented with proximal muscle weakness in lower extremities. The patient experienced recurrent renal cyst infection, with aggravated weakness during each event. Electromyography and nerve conduction study revealed bilateral femoral neuropathy. Computed tomography and magnetic resonance images were added to further identify the cause. As a result, a diagnosis of femoral neuropathy caused by enlarged polycystic kidney was made. Cyst infection was managed with antibiotics. Renal function was maintained by frequent regular hemodialysis. While avoiding activities that may increase abdominal pressure, rehabilitation exercises were provided. Motor strength in hip flexion and knee extension improved, and was confirmed via electrodiagnostic studies.

Clinical outcomes of kidney transplants on patients with end-stage renal disease secondary to lupus nephritis, polycystic kidney disease and diabetic nephropathy / Resultados clínicos de trasplantes de riñón en pacientes con enfermedad renal en etapa terminal secundaria anefritis lupus, enfermedad poliquística renal y nefropatía diabética

Background: Patients with lupus nephritis could progress to endstage renal disease (10-22%); hence, kidney transplants should be considered as the treatment of choice for these patients. Objective: To evaluate the clinical outcomes after kidney transplants in patients with chronic kidney diseases secondary to lupus nephritis, polycystic kidney disease and diabetes nephropathy at Pablo Tobon Uribe Hospital. Methods: A descriptive and retrospective study performed at one kidney transplant center between 2005 and 2013. Results: A total of 136 patients, 27 with lupus nephritis (19.9%), 31 with polycystic kidney disease (22.8%) and 78 with diabetes nephropathy (57.4%), were included in the study. The graft survivals after one, three and five years were 96.3%, 82.5% and 82.5% for lupus nephritis; 90%, 86% and 76.5% for polycystic kidney disease and 91.7%, 80.3% and 67.9% for diabetes nephropathy, respectively, with no significant differences (p= 0.488); the rate of lupus nephritis recurrence was 0.94%/person-year. The etiology of lupus vs diabetes vs polycystic disease was not a risk factor for a decreased time of graft survival (Hazard ratio: 1.43; 95% CI: 0.52-3.93). Conclusion: Kidney transplant patients with end stage renal disease secondary to lupus nephritis has similar graft and patient survival success rates to patients with other kidney diseases. The complication rate and risk of recurrence for lupus nephritis are low. Kidney transplants should be considered as the treatment of choice for patients with end stage renal disease secondary to lupus nephritis.

Antecedentes: Pacientes con nefritis lúpica pueden progresar a enfermedad renal crónica terminal (10-22%); en estos pacientes el trasplante renal debe ser considerado como la terapia de elección. Objetivo: Evaluar los desenlaces clínicos de un grupo de pacientes con enfermedad renal crónica terminal por nefropatía lúpica, enfermedad renal poliquística y nefropatía diabética que fueron sometidos a trasplante renal en el Hospital Pablo Tobón Uribe. Métodos: Estudio retrospectivo, descriptivo, realizado en un solo centro de trasplante renal, durante el período 2005-2013. Resultados: Se evaluaron 136 pacientes: 27 con nefritis lúpica (19.9%), 31 con enfermedad renal poliquística (22.8%) y 78 con nefropatía diabética (57.4%). La supervivencia del injerto a uno, tres y cinco años fue de de 96.3%, 82.5% y 82.5% en nefropatía lúpica, 90%, 86% y 76.5% en enfermedad renal poliquística y 91.7%, 80.3% y 67.9% en nefropatía diabética respectivamente, sin diferencias estadísticas significativas (Long Rank test= 0.488). La tasa de recurrencia de nefritis lúpica posterior al trasplante renal fue de 0.94%/persona-año. Tener lupus vs diabetes o enfermedad renal poliquística no fue un factor de riesgo para disminución del tiempo de supervivencia del injerto (Hazard ratio= 1.43; 95% IC= 0.52-3.93). Conclusiones: Los pacientes enfermedad renal crónica terminal secundaria a nefritis lúpica, que son llevados a trasplante renal tienen tasas de éxito similar en cuanto a supervivencia del injerto y del paciente, al compararlos con otras enfermedades renales. La tasa de complicaciones y el riesgo de recurrencia de la nefropatía lúpica son bajos. El trasplante renal debe ser considerado como la terapia de elección para los pacientes con enfermedad renal crónica estadio terminal secundaria a nefritis lúpica.

Advances in cell proliferation and apoptosis signal pathway and therapies of polycystic kidney disease / 解放军医学杂志

Polycystic kidney disease (PKD) is one of the monogenic inherited diseases. In PKD, excessive cell proliferation and fluid secretion, and disruption of the mechanisms controlling tubular diameter may all lead to cyst formation. Current evidence has demonstrated that intracellular calcium ion and cAMP imbalance drive both abnormal cell proliferation and apoptosis signal pathway. The present paper summarized the evidence implicating calcium ion and cAMP as central players in the signaling pathway of cell proliferation and apoptosis in PKD, and considered the potential therapeutic approaches targeted to slow cyst growth in PKD.

Neonatal polycystic kidney disease:a case report and literature review / 中国新生儿科杂志

Objective To study the clinical characteristics and imaging features of perinatal autosomal recessive polycystic kidney disease ( ARPKD) and a systematic review of the literature was performed to improve awareness of the disease. Methods A newborn with infantile ARPKD admitted to the neonatal department of our hospital was studied and her clinical data and imaging features retrospectively reviewed. CNKI, CBMdisc, MEDLINE and Embase databases were searched using autosomal recessive, perinatal and polycystic kidney as keywords. 9 case reports were retrieved from 2005 to 2015 and a total of 9 patients were analyzed. Results The gestational age of patients with infantile ARPKD was from 33 to 37 weeks. 6 of them were diagnosed using prenatal ultrasound and one patient was diagnosed using genetic sequencing. One of 10 infants had a family history, 4 patientsˊ mothers had abnormal pregnancy history (spontaneous abortion or miscarriage) and 7 (70. 0%) patients with respiratory failure needed mechanical ventilation. The ultrasound of all the patients showed enlarged and hyperechogenic kidneys. 9 patients died, and only one patient was alive after renal transplant. Conclusions The characteristics of perinatal APRKD are enlarged and polycystic kidneys, hepatic cysts and liver fibrosis. Infants with this disease have poor outcomes and high mortality rate. Respiratory failure and renal failure are the main causes of death in the neonatal period and early diagnosis and treatment are necessary.

Embolización de riñón poliquístico: una alternativa menos invasiva a la nefrectomía pre-trasplante / Embolization of polycystic kidney: a less invasive alternative to pretransplant nephrectomy

La embolización arterial de riñón poliquístico, en candidatos a trasplante renal, es una técnica recientemente descrita que pudiese servir como alternativa a la nefrectomía a objeto de generar el espacio suficiente para el injerto. Materiales y Métodos: Presentamos el caso de un paciente varón de 57 años con enfermedad renal crónica secundario a enfermedad renal poliquística familiar autosómica dominante en hemodiálisis. Los riñones ocupaban completamente el abdomen y pelvis. Se le realizó embolización del riñón derecho y se controló con Tomografía Axial Computada de abdomen y pelvis sin contraste cada 3 meses. Resultados: El procedimiento se realizó sin complicaciones, salvo el intenso dolor lumbar posterior al procedimiento que requirió altas dosis de analgesia endovenosa. Se logró una disminución del volumen renal de un 46 por ciento en 6 meses, creando así espacio suficiente para el alojamiento del injerto renal. A los 9 meses se realizó el trasplante, evolucionando con adecuada función del injerto. Conclusión: La embolización arterial renal es una técnica efectiva, poco invasiva y con baja morbilidad, la cual puede ser utilizada para la disminución del volumen renal, en pacientes con riñones poliquísticos, a objeto de crear suficiente espacio para un trasplante renal...

Renal arterial embolization of polycystic kidneys in renal transplant candidates has been recently described as an alternative to nephrectomy for generating enough space for the renal graft. Materials and Methods: We present the case of a 57 year old male patient, with chronic renal failure in hemodialysis, secondary to autosomal dominant polycystic kidney disease. The cystic kidneys completely occupied the abdomen and pelvis leaving no space for a renal transplant. Right renal arterial embolization was performed. The patient was followed up with unenhanced computed tomography every 3 months. Results: Right renal embolization was performed without complications, except the severe low back pain, which required high doses of intravenous analgesia. Renal volume decreased by 46 percent in 6 months, making enough space for the renal graft. Nine months after embolization, renal transplant was carried out on the right iliac fossa with no complications and with immediate graft function. Conclusion: Renal arterial embolization is an effective, less invasive and safer technique that can be used to reduce renal volume and make enough space for a renal transplant...

Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease / 대한내과학회지

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by the dysregulated growth of kidney cysts, resulting in end-stage kidney failure. By identifying the genes involved in ADPKD and detailing the molecular pathology of the disease, putative therapeutic agents have been developed. However, clinical trials of vasopressin receptor antagonists and somatostatin analogues have raised several concerns among researchers and clinicians. Questions regarding when and who to treat and what surrogate marker to use for describing endpoints have been raised. This review focuses on the current methods for managing ADPKD and describes recent findings from clinical trials. The main difficulties associated with implementing therapeutic agents in patients with ADPKD and considerations for clinical settings will also be discussed.

Successful Endovascular Stent-Graft Repair for Complicated Type B Aortic Dissection Developed in a Patient with Polycystic Kidney Disease

Polycystic kidney disease (PCKD) is rarely associated with aortic dissection (AD), which is a life-threatening disease. Although endovascular stent-graft repair tends to show better outcomes than conventional therapies in complicated type B AD (TBAD), successful endovascular intervention of TBAD with malperfusion in a patient with PCKD has not been reported. This case shows a 37-year-old male who had sudden onset of sharply stabbing epigastric pain with severe hypertension, who was diagnosed with TBAD and PCKD by a computed tomography and initially underwent medical treatment. Four days after discharge, he was rehospitalized with left leg pain and paresthesia due to left lower leg malperfusion. Thoracic endovascular stent-graft repair covering the primary tear site of dissection was performed successfully, leading to a decrease in false lumen and improvement of symptoms. We report the case of complicated TBAD in a patient with PCKD treated with endovascular stent-graft repair.

Diagnosis and research of Meckel-Gruber syndrome / 中华检验医学杂志

Meckel-Gruber syndrome is a rare,fatal disease.The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250.With the development of ultrasound and molecular diagnosis technology,especially the emergence of the third generation of in vitro fertilization (IVF) and prenatal genetic diagnosis (PGD),it is possible for the genetic carriers to solve the fertility problems.In this review,the recent insight of Meckel-Gruber syndrome diagnostic criteria,possible pathogenesis and differential diagnosis of other diseases were discussed.Through the introduction of the disease,it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders.It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders,and provide eugenic counseling and clinical guidance to the affected families.

Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

Características sociodemográficas e aspectos clínicos de pacientes com doença renal policística do adulto submetidos à hemodiálise / Sociodemographic characteristics and clinical features of patients withadult polycystic kidney disease undergoing hemodialysis

Objetivos: Analisar as características sociodemográficas e clínicas de pacientes portadores da doença renal policística do adulto admitidos nos serviços de hemodiálise no noroeste do estado do Paraná.Métodos: Trata-se de um estudo observacional, descritivo e retrospectivo. Foram revisados os prontuários de pacientes com rins policísticos admitidos para hemodiálise entre 1995 e 2012, em quatro centros que atendem pacientes da área de abrangência da 15ª Regional de Saúde do Paraná.Resultados: Observou-se que 10,3% dos pacientes em hemodiálise tinham rins policísticos como principal causa de doença renal crônica estágio 5. A idade média dos pacientes foi de 54,9±9,4 anos (variando entre 27 e 74 anos), com distribuição igual entre os sexos e predominância caucasiana (72,9%). A idade média de ingresso na hemodiálise foi de 50±10,2 anos. A manifestação clínica associada mais comum foi a hipertensão arterial sistêmica (66,7%). Cisto hepático foi a principal manifestação extrarrenal (10,4%). Vinte e cinco por cento dos pacientes evoluíram para transplante renal e 22,9% foram submetidos à nefrectomia. As classes de drogas anti-hipertensivas mais amplamente usadas foram os ?-bloqueadores (41,7%) e as drogas que diminuem a atividade do sistema renina-angiotensina (31,3%), enquanto 56,3% dos pacientes fizeram uso de eritropoetina humana recombinante.Conclusões: Este estudo epidemiológico foi pioneiro na região noroeste do Paraná. Encontrou-se, na população estudada, um perfil sociodemográfico e clínico da doença renal policística do adulto semelhante ao da América do Norte e Europa, provavelmente pela constituição étnica da amostragem ser predominantemente de euro-descendentes.

Aims: To analyze the socio-demographic and clinical characteristics of patients with adult polycystic kidney disease admitted to hemodialysis services in Northwestern Paraná state, Brazil. Methods: This was an observational, descriptive and retrospective longitudinal study. Medical records of patients with polycystic kidneys who initiated hemodialysis between 1995 and 2012, in four centers that treat patients of the coverage area of the 15th Regional Health Region of Paraná stat e where analyzed. Results: We found that 10.3% of hemodialysis patients had polycystic kidney disease as a leading cause of stage 5 of chronic kidney disease. The mean age of patients was 54.9±9.4 years (ranging between 27 and 74 years), with equal gender distribution and Caucasian predominance (72.9%). The average age of dialysis initiation was 50±10.2 years. The most common comorbidity was systemic hypertension (66.7%). Liver cyst was the main extra-renal manifestation (10.4%). Twenty-five percent of the patients required renal transplantation, and (22.9%) undergone nephrectomy. The most widely used classes of antihypertensive drugs were β -blockers (41.7%) and drugs that act on the renin-angiotensin system (31.3%), while 56.3% of patients were treated with recombinant human erythropoietin. Conclusions: This is a pioneering epidemiological study in Northwestern Paraná state. We found in this population a sociodemographic and clinical profile of adult polycystic kidney disease similar to that of North America and Europe, probably because the ethnic constitution of the sample was predominantly of Euro-descendants.

Enfermedad poliquística: presentación de un caso / Polycystic disease: a case presentation

La enfermedad renal poliquística autosómica dominante es una de las grandes causas de insuficiencia renal crónica en la población adulta.Caso clínico: se reporta el caso de un paciente con enfermedad renal poliquística autosómica dominante, que presentó como complicaciones una cirrosis hepática de causa mecánica, se les realizaron reiterados estudios virológicos en busca de hepatitis B Y C los cuales resultaron negativos, tenía presencia de circulación colateral en la pared abdominal y una ascitis a tensión, hemorroides grado III y várices esofágicas, todo esto como expresión del daño hepático severo, también se demostró la presencia de una insuficiencia respiratoria crónica con patrón restrictivo, en los estudios espirométricos y radiológicos realizados se detectó compresión pulmonar y desplazamiento del diafragma por el tamaño de los riñones y el gran conflicto de espacio, además presentó hernias en región peri umbilical y fosa ilíaca derecha por la gran presión intrabdominal que tenía. Tuvo episodios de sangramientos digestivos bajos y murió de una hematemesis brutal por várices esofágicas

Autosomal dominant polycystic kidney disease is one of the major causes of chronic renal failure in adult population.Clinical case: a patient with an autosomal dominant polycystic kidney disease is reported, who presented as complications an hepatic cirrhosis of mechanical cause, were repeated virological studies in search of hepatitis B and C, which were negative, presence of collateral circulation in the abdominal wall and tension ascites, hemorrhoids grade III and esophageal varices, all this as an expression of severe liver damage. Also showed the presence of a chronic respiratory insufficiency with restrictive pattern, spirometric and radiological studies carried out, lung compression and diaphragm displacement by the size of kidneys and the great conflict in space was detected, also presented hernias in the periumbilical region and right iliac fossa by the great intra-abdominal pressure this patient suffered. He had episodes of lower digestive bleeding and died because of a brutal hematemesis from esophageal varices

The Usefulness of Urinary Angiotensinogen as a Biomarker of Renal Progression in Autosomal Dominant Polycystic Kidney Disease / 대한신장학회지

PURPOSE: The renin-angiotensin-aldosterone system activation has been suggested as a potential risk factor for renal progression in autosomal dominant polycystic kidney disease (ADPKD). This study was performed to evaluate urinary angiotensinogen as a biomarker of renal progression in ADPKD. METHODS: Patients with estimated glomerular filtration rate (eGFR) > or =30 mL/min/1.73m2 were enrolled in the study. Specimens (blood and urine) and computed tomography (CT) were taken from each subject. The eGFR was calculated by 4-variable MDRD equation and total kidney volume (TKV) was measured from CT images by modified ellipsoid method. Urinary angiotensinogen (AGT) and neutrophil gelatinaseassociated lipocalin (NGAL) were measured by ELISA. The concentration of AGT was adjusted with random urine creatinine (Cr). The association between urinary biomarkers, TKV and eGFR were evaluated. RESULTS: A total of 59 (M:F=31:28) subjects were enrolled in the study and their mean age was 46 years. The eGFR and TKV at the enrollment were 77.3+/-15.6 mL/min/1.73m2 and 1389.8+/-925.1 mL, respectively. Log AGT/Cr was associated with TKV (r2=0.117, p=0.01) in the earlier stage of disease (TKV<3,000 mL). However, it did not show significant correlation with eGFR. Log NGAL was not associated with either TKV or eGFR. Urinary AGT/Cr was closely related to the number of anti-hypertensive medication, TKV, and the presence of albuminuria, although there was no correlation with plasma renin activity or aldosterone level. CONCLUSION: Urinary angiotensinogen may be a useful biomarker of disease progression in ADPKD patients.

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.

Rim em ferradura com cistos e ureter único: relato de caso / Horseshoe kidney with cysts and a single ureter: a case report

O rim em ferradura é a mais comum de todas as anomalias de fusão, ocorrendo em aproximadamente 0,25 por cento da população geral. O rim em ferradura com ureter único é uma rara anomalia. Um paciente do sexo masculino de 60 anos foi admitido para investigação rotineira de triagem. Sua história familiar era negativa para doenças renais e o exame físico foi considerado normal. A tomografia computadorizada revelou um rim em ferradura atípico com cistos e a reconstrução tridimensional na tomografia computadorizada mostrou a presença de um único ureter. O paciente encontra-se assintomático após dois anos de seguimento. Apresentamos um raro caso de paciente portador de rim em ferradura com cistos e ureter único diagnosticado incidentalmente.

Horseshoe kidney is the most common of all renal fusion anomalies, occurring in approximately 0.25 percent of the general population. Horseshoe kidney with only a single ureter is a rare anomaly. A 60-year-old man was admitted to hospital for routine health screening. His family history was negative for kidney diseases, and there was no abnormality in his physical examination. A computed tomography (CT) scan revealed an atypical horseshoe kidney with cysts and three-dimensional spiral CT reconstruction showed the presence of a single ureter. The patient has since been followed up for two years without any signs of clinical disease. We report a rare case of a patient with a horseshoe kidney with cysts and a single ureter that was diagnosed incidentally.