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Abstract Introduction: Identifying risk factors for autosomal dominant polycystic kidney disease (ADPKD) progression is important. However, studies that have evaluated this subject using a Brazilian sample is sparce. Therefore, the aim of this study was to identify risk factors for renal outcomes and death in a Brazilian cohort of ADPKD patients. Methods: Patients had the first medical appointment between January 2002 and December 2014, and were followed up until December 2019. Associations between clinical and laboratory variables with the primary outcome (sustained decrease of at least 57% in the eGFR from baseline, need for dialysis or renal transplantation) and the secondary outcome (death from any cause) were analyzed using a multiple Cox regression model. Among 80 ADPKD patients, those under 18 years, with glomerular filtration rate <30 mL/min/1.73 m2, and/or those with missing data were excluded. There were 70 patients followed. Results: The factors independently associated with the renal outcomes were total kidney length - adjusted Hazard Ratio (HR) with a 95% confidence interval (95% CI): 1.137 (1.057-1.224), glomerular filtration rate - HR (95% CI): 0.970 (0.949-0.992), and serum uric acid level - HR (95% CI): 1.643 (1.118-2.415). Diabetes mellitus - HR (95% CI): 8.115 (1.985-33.180) and glomerular filtration rate - HR (95% CI): 0.957 (0.919-0.997) were associated with the secondary outcome. Conclusions: These findings corroborate the hypothesis that total kidney length, glomerular filtration rate and serum uric acid level may be important prognostic predictors of ADPKD in a Brazilian cohort, which could help to select patients who require closer follow up.

Resumo Introdução: É importante identificar fatores de risco para progressão da doença renal policística autossômica dominante (DRPAD). Entretanto, são escassos os estudos que avaliam esse assunto utilizando amostra brasileira. Portanto, o objetivo deste estudo foi identificar fatores de risco para desfechos renais e óbito em coorte brasileira de pacientes com DRPAD. Métodos: Os pacientes tiveram o primeiro atendimento médico entre janeiro/2002 e dezembro/2014, sendo acompanhados até dezembro/2019. Associações entre variáveis clínicas e laboratoriais com desfecho primário (redução sustentada de pelo menos 57% na TFGe em relação ao valor basal, necessidade de diálise ou transplante renal) e desfecho secundário (óbito por qualquer causa) foram analisadas pelo modelo de regressão múltipla de Cox. Entre 80 pacientes com DRPAD, foram excluídos aqueles menores de 18 anos, com TFG <30 mL/min/1,73 m2 e/ou aqueles com dados ausentes. Foram acompanhados 70 pacientes. Resultados: Fatores independentemente associados aos desfechos renais foram: comprimento renal total - Razão de Risco (HR) ajustada com intervalo de confiança de 95% (IC 95%): 1,137 (1,057-1,224), taxa de filtração glomerular - HR (IC 95%): 0,970 (0,949-0,992) e nível sérico de ácido úrico - HR (IC 95%): 1,643 (1,118-2,415). Diabetes mellitus - HR (IC 95%): 8,115 (1,985-33,180) e TFG - HR (IC 95%): 0,957 (0,919-0,997) foram associados ao desfecho secundário. Conclusões: Esses achados corroboram a hipótese de que comprimento renal total, TFG e nível sérico de ácido úrico podem ser importantes preditores prognósticos de DRPAD em uma coorte brasileira, o que pode ajudar a selecionar pacientes que necessitam de acompanhamento mais próximo.

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Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.

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Resumen Las enfermedades quísticas renales son condiciones frecuentes cuya etiología puede ser muy heterogénea, por lo que se requiere un adecuado abordaje para su diagnóstico y manejo. El objetivo de este trabajo fue ilustrar parte del espectro de la enfermedad renal quística por medio de casos clínicos manejados en la Fundación Valle del Lili. Se describen 11 casos clínicos que incluyen enfermedades como displasia multiquística renal, enfermedad poliquística renal autosómica dominante y autosómica recesiva, entre otras. Las enfermedades quísticas renales varían en su presentación clínica, historia natural, hallazgos imagenológicos, bases genéticas y fisiopatológicas, por consiguiente, el enfoque diagnóstico y el manejo integral se debe realizar de forma individualizada y con un abordaje multidisciplinario.

Abstract Renal cystic diseases are common conditions whose etiology can be highly heterogeneous. They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service. We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies. Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.

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ABSTRACT Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.

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ABSTRACT Polycystic liver disease, a hereditary pathology, usually manifests as autosomal dominant polycystic kidney disease. The many cysts in the liver cause massive hepatomegaly, majorly affecting the patient's quality of life. In cases of refractory symptoms, liver transplantation is the only treatment choice. A 43-year-old woman was followed up as a hepatology outpatient in August 2020, with a progressive increase in abdominal volume, lower limb edema, and cachexia. The patient was diagnosed with polycystic renal and liver disease with massive hepatomegaly in March 2021, a combined kidney-liver transplant. Liver size represented 13% of the patient's corporal composition, weighing 8.6kg. The patient was discharged on the 7th postoperative day with no complications. Only 10-20% of patients with polycystic liver disease have clinical manifestations, most of which result from hepatomegaly. An increase in liver volume deteriorates liver function until the condition becomes end-stage liver disease, as kidney function is already compromised; liver-kidney transplantation remains the only treatment choice. The case described drew significant attention to the massive hepatomegaly presented in the patient, with the liver representing over 10% of the patient's body weight, approximately five to six times larger than a normal-sized liver.

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We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas with the presence of variable acid-fast coccobacilli (consistent with Brucella spp.). Interestingly, extensive amyloid deposition in multiple organs was noted. To the best of our knowledge, this is the first case of chronic brucellosis causing tumor-like abscesses in the liver accompanied by secondary systemic amyloidosis in a patient with underlying autosomal dominant polycystic kidney disease.

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We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas with the presence of variable acid-fast coccobacilli (consistent with Brucella spp.). Interestingly, extensive amyloid deposition in multiple organs was noted. To the best of our knowledge, this is the first case of chronic brucellosis causing tumor-like abscesses in the liver accompanied by secondary systemic amyloidosis in a patient with underlying autosomal dominant polycystic kidney disease.

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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.

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La poliquistosis renal autosómica dominante (PRAD), es una enfermedad hereditaria multiorgánica, caracterizada por el progresivo crecimiento y desarrollo de quistes renales que destruyen el parénquima funcional. Es la patología quística renal más frecuentemente transmitida de forma genética y es causa de insuficiencia renal crónica (IRC) que en ocasiones precisa de tratamiento renal sustitutivo. Describimos el caso de una paciente adulta con PRAD asociada a poliquistosis hepática que tiene antecedente del progenitor de PRAD, fue diagnosticada hace ocho años por estudio ecográfico, se le realizó el seguimiento correspondiente. Actualmente empezó a presentar alteración de la función renal, pero preserva la función hepática. Existen muy pocos casos reportados en nuestro medio, a pesar de ser una patología relativamente frecuente. Por lo que se decide hacer una revisión enfocada en el diagnóstico imagenológico, dejando en claro la utilidad de la ecografía en el diagnóstico de poliquistosis renal, ya que es el método de elección en el diagnóstico por imagen, adicionalmente nos permite hacer un seguimiento del caso y confirmar o descartar la frecuente asociación de una poliquistosis en otro órgano (fundamentalmente hepático).

Autosomal dominant polycystic kidney disease (PRAD) is a multisystem hereditary disease characterized by the progressive growth and development of renal cysts that destroy functional parenchyma. Renal cystic disease is the most common genetic form transmitted and causes of chronic renal failure (CRF) which sometimes requires renal replacement therapy. We describe an adult patient with polycystic liver PRAD associated with the parent who has a history of PRAD, was diagnosed eight years ago by ultrasonography, underwent the follow-up. Today started presenting impaired renal function, but preserved liver function. There are very few cases reported in our area, despite being a relatively common condition. It is decided to review focuses on imaging diagnosis, making clear the usefulness of ultrasonography in the diagnosis of polycystic kidney disease, since it is the method of choice for imaging additionally allows us to monitor the case and confirm or rule out the frequent association of polycystic in another organ (mainly liver).

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Vários estudos mostram que na doença renal policística autossômica dominante os cistos surgem a partir de um mecanismo de "dois-golpes". A patogênese das manifestações não-císticas, contudo, é pouco compreendida. Neste estudo usamos uma linhagem de camundongos endogâmica com uma mutação nula em Pkd1, onde animais heterozigotos apresentam formação cística renal mínima até 40 semanas de idade. O clearance de inulina e o número de glomérulos foram menores em machos Pkd1+/- que Pkd1+/+, enquanto o volume glomerular médio foi maior em heterozigotos. A excreção urinária de NO2/NO3 não diferiu significantemente entre os dois grupos. Avaliamos a osmolalidade urinária máxima em machos e fêmeas Pkd1+/- and Pkd1+/+, porém não foi detectada diferença significante entre os grupos heterozigoto e selvagem. Nossos resultados oferecem evidência direta de que a haploinsuficiência de Pkd1 resulta em anormalidades anatômicas e funcionais renais e sugerem que o estado haploinsuficiente de Pkd1 possa resultar na redução do número de néfrons por diminuir a ramificação tubular renal durante a nefrogênese.

Several studies show that in autosomal dominant polycystic kidney disease cysts arise through a "two-hit" mechanism. The pathogenesis of non-cystic features, however, is poorly understood. In this study we used an inbred mouse line with a null mutation of Pkd1, where heterozygotes had minimal renal cyst formation up to 40 weeks of age. Inulin clearance and the number of glomeruli were lower in Pkd1+/- than in Pkd1+/+ males, while a higher average glomerular volume was observed in heterozygotes. The urinary excretion of NO2/NO3 did not significantly differ between the two groups. Maximal urinary osmolality was evaluated in Pkd1+/- and Pkd1+/+ males and females, but no significant difference was detected between the heterozygous and the wild type groups. Our results provide direct evidence that haploinsufficiency for Pkd1 results in anatomic and functional abnormalities of the kidney and suggest that Pkd1 haploinsufficiency may result in a reduced number of nephrons by diminishing renal tubule branching during nephrogenesis.

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