Polykystose renale autosomique dominante (PKAD) au CNHU-HKM de Cotonou: profil épidémiologique, clinique, biologique et intérêt du dépistage familial

Introduction: Étudier le profil épidémiologique, clinique et paraclinique de la PKAD chez des patients diagnostiqués au CNHU de Cotonou et évaluer l'intérêt d'un dépistage chez les patients à risque. Méthodes: Il s'agit d'une étude transversale comportant une revue de dossiers des patients cliniquement diagnostiqués PKAD à la clinique universitaire de néphrologie et d'hémodialyse du 1er janvier 2000 au 31 janvier 2011, et une enquête familiale chez les patients où le diagnostic de PKAD a été confirmé entre le 1er février et le 31 Août 2011.Un séquençage à la recherche de mutations dans les gènes de la Polycystine 1 et 2 a été réalisé chez les cas index. Résultats: L'incidence hospitalière de la PKAD était de 7,8 cas par an. Le dépistage familial avait permis d'examiner 99 membres de 22 familles et de confirmer 14 cas de PKAD. L'âge moyen des patients était de 45,6±12,8ans. Le signe physique le plus fréquent était l'hypertension artérielle (HTA (83%). Une insuffisance rénale chronique était observée dans 75% des cas. Le séquençage direct avait permis de mettre en évidence 7 nouvelles mutations dont 02 mutations dans les gènes PKD2 et 5 dans PKD1. Conclusion: La PKAD relativement fréquente, présente de nouvelles mutations chez les patients diagnostiqués au CNHU de Cotonou. Le conseil génétique est particulièrement indiqué dans les familles où la maladie rénale a débuté précocement

Poliquistosis renal autosómica dominante: necesidad de diagnóstico y tratamiento oportuno / Autosomal dominant polycystic kidney disease: the need for a timely diagnosis and treatment

La poliquistosis renal autosómica dominante es la enfermedad hereditaria renal más frecuente. Actualmente se están realizando claros avances en el intento de enlentecer su progresión. Con la evidencia actual es aconsejable la detección y el tratamiento precoz de la hipertensión arterial, de los factores de riesgo cardiovascular y de las complicaciones renales y extrarrenales. Se deben aplicar todas las medidas de nefroprevención para evitar la progresión de la enfermedad renal crónica y ofrecer de manera coordinada, en caso de ser necesario, el acceso a todas las técnicas de reemplazo de la función renal, incluido el trasplante renal. Si bien no hay evidencia acerca de la medicación antihipertensiva ideal, el uso de inhibidores de la enzima convertidora de la angiotensina y/o antagonistas de los receptores de la angiotensina II, parece recomendable...

Doenca renal policistica autossomica dominante em pacientes em hemodialise no sul do Brasil / Autosomal dominant polycystic kidney disease in hemodialysis patients in southern Brazil

Introdução: A doença renal policística autossômica dominante é a enfermidade renal hereditária mais comum em seres humanos. Objetivo: Analisar a prevalência, características clínicas e laboratoriais de pacientes com rins policísticos e relacionar as manifestações da doença por gênero. Métodos: Trata-se de um estudo observacional e retrospectivo. Foram revisados todos os prontuários médicos de pacientes com rins policísticos admitidos para hemodiálise entre 1995 e 2012, em quatro centros que atendem a área de abrangência da 15ª regional de saúde do Paraná, Brasil. Resultados: Fizeram parte do estudo 48 pacientes com rins policísticos, causa primária da doença renal crônica (DRC) estágio 5. A prevalência da doença foi de um em 10.912 habitantes. A média de idade de ingresso na hemodiálise (50,7 anos) e o tempo de seguimento em hemodiálise até o transplante (36,5 meses) foi menor nos homens. A hipertensão arterial foi o diagnóstico mais frequente em 73% dos pacientes, com predominância em mulheres (51,4%). O cisto hepático foi a manifestação extrarrenal mais frequente nos homens (60,0%). Foram a óbito 10,4% dos pacientes que faziam uso de hemodiálise, sendo 60% de homens. A classe de droga anti-hipertensiva mais utilizada foi a que atua no sistema renina-angiotensina, com maior frequência de uso nas mulheres (53,3%). A ureia pós-diálise foi significativamente maior em homens. Conclusão: A prevalência da doença é baixa entre pacientes em hemodiálise no sul do Brasil. As diferenças observadas entre os gêneros, com exceção da ureia pós, não foram significantes. Os dados encontrados são diferentes dos reportados na América do Norte e Europa. .

Introduction: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. Objective: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease manifestations by gender. Methods: This was an observational and retrospective study. All the 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 Paraná (Brazil), were analyzed. Results: The study included 48 patients with polycystic kidneys, the primary cause of stage 5 CKD. Disease prevalence was one in 10,912 people. The average age of dialysis initiation was 50.7 years and the follow-up time on dialysis until transplantation (36.5 months) was lower among men. Hypertension was the most frequent diagnosis in 73% of patients, predominantly in women (51.4%). The liver cyst was the most frequent extrarenal manifestations in men (60.0%). The death occurred in 10.4% of patients using hemodialysis, and 60% of men. The class of antihypertensive drug used was that acts on the renin-angiotensin system with higher frequency of use among women (53.3%). The post-dialysis urea was significantly higher in men. Conclusion: The prevalence of the disease is low among hemodialysis patients in southern Brazil. The differences observed between genders, with the exception of the post-dialysis urea, were not significant. The findings are different from those reported in North America and Europe. .

Successful Pregnancy in a Patient with Autosomal Dominant Polycystic Kidney Disease on Long-Term Hemodialysis

Recent advances in dialysis and a multidisciplinary approach to pregnant patients with advanced chronic kidney disease provide a better outcome. A 38-yr-old female with autosomal dominant polycystic kidney disease (ADPKD) became pregnant. She was undergoing hemodialysis (HD) and her kidneys were massively enlarged, posing a risk of intrauterine fetal growth restriction. By means of intensive HD and optimal management of anemia, pregnancy was successfully maintained until vaginal delivery at 34.5 weeks of gestation. We discuss the special considerations involved in managing our patient with regard to the underlying ADPKD and its influence on pregnancy.

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.

Transcatheter Arterial Embolization Therapy for a Massive Polycystic Liver in Autosomal Dominant Polycystic Kidney Disease Patients

Polycystic liver is the most common extra-renal manifestation associated with autosomal dominant polycystic kidney disease (ADPKD), comprising up to 80% of all features. Patients with polycystic liver often suffer from abdominal discomfort, dyspepsia, or dyspnea; however, there have been few ways to relieve their symptoms effectively and safely. Therefore, we tried transcatheter arterial embolization (TAE), which has been used in treating hepatocellular carcinoma. We enrolled four patients with ADPKD in Seoul National University Hospital, suffering from enlarged polycystic liver. We embolized the hepatic arteries supplying the dominant hepatic segments replaced by cysts using polyvinyl alcohol particles and micro-coils. The patients were evaluated 12 months after embolization for the change in both liver and cyst volumes. Among four patients, one patient was lost in follow up and 3 patients were included in the analysis. Both liver (33%; 10%) and cyst volume (47.7%; 11.4%) substantially decreased in two patients. Common adverse events were fever, epigastric pain, nausea, and vomiting. We suggest that TAE is effective and safe in treating symptomatic polycystic liver in selected ADPKD patients.

Enfermedad renal poliquística autosómica dominante / Renal illness poliquística autosómica dominant

El objetivo de esta revisión es trasmitir a los estudiantes y médicos generales básicos algunos aspectos fundamentales sobre esta enfermedad, relativamente frecuente, que puede incluso diagnosticarse antes del nacimiento, en el niño recién nacido, lactante y preescolar, y que hasta hace algunos años era conocida como enfermedad renal poliquística de tipo adulto. Se enfatiza también en la importancia de la historia familiar y la utilidad del ultrasonido diagnóstico como elemento importante y no invasivo para el diagnóstico. En segundo lugar, insistimos en los signos de presentación de la enfermedad, sus posibles complicaciones y factores de riesgo para la progresión de ésta. Esta revisión aspira, además, a contribuir a la búsqueda de la enfermedad y a que se pueda ofrecer un asesoramiento genético adecuado.

The objective of this literature review was to provide medical students and general practitioners with some fundamental aspects on this relatively frequent disease that may even be diagnosed before birth, in newborns, infants and preschool-age children and that until some years, it was known as polycystic autosomal recessive disease of the adult type. The importance of family history and usefulness of diagnostic ultrasound as an important non-invasive element of diagnosis was stressed. Secondly, we insist on the presentation signs of the disease, possible complications and risk factors for the progression. This review was additionally intended to contribute to detection of the disease and to provide an adequate genetic counselling.

Unilateral Autosomal Dominant Polycystic Kidney Disease with Contralateral Renal Agenesis: A Case Report

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. There are some reports in the literature concerning unilateral ADPKD. However, in adults, only a few cases of unilateral ADPKD with agenesis of contralateral kidney have been reported. We present a case of unilateral ADPKD with agenesis of contralateral kidney in a 66-yr-old man. Radiographic images showed the enlarged right kidney with multiple variable-sized cysts and the absence of the left kidney. The diagnosis of ADPKD was confirmed by the family screening. The patient received maintenance hemodialysis for endstage renal disease. We report a case of unilateral ADPKD associated with contralateral renal agenesis in a 66-yr-old male patient with a literature review.

Molecular defect of PKD1 gene resulting in abnormal RNA processing in a Thai family.

Autosomal dominant polycystic kidney disease (ADPKD) is a common human autosomal disorder caused mainly by mutations of the PKD1 gene. In analysis of PKD1 transcripts by long RT-PCR and nested PCR procedures, we observed PKD1-cDNA fragments from three ADPKD siblings from the same family with a size approximately 250 base pairs (bp) shorter than normal. Further investigations showed that the PKD1 transcripts from these patients had been abnormally processed, the nucleotide sequence of exon 43 containing 291 nt was missing from the transcripts, which would result in an abnormal polycystin-1 with an in-frame deletion of 97 amino acids. This splicing defect did not result from a mutation that disrupted the splice donor or acceptor sites adjacent to exon 43 or the branch sites in flanking introns but was most likely due to 20-bp deletion observed in intron 43. The intronic deletion was present in 8 affected members but absent in 11 unaffected members, corresponding with the results of genetic linkage analysis using 5 polymorphic markers in the PKD1 region. Molecular diagnosis of PKD1 in this family could, therefore, be carried out by genomic DNA amplification to directly detect the PKD1 intronic deletion.