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.

Sonographic Analysis of Adult Polycystic Kidney Disease: Retrospective Data from South-East Nigeria

Background: Autosomal dominant polycystic kidney disease (APKD); an inheritable multisystem disease characterized by intrarenal and at times extrarenal disease; has been studied extensively among Caucasian populations. Despite the fact that being black is a risk factor for progressive disease; there is paucity of local published data. As a result; true local incidence and peculiarities in clinical and sonographic characteristics are unknown.Aim: To present data from 19 patients diagnosed with APKD in a medium-sized facility over a 16-year period.Materials and Methods: A retrospective search was done on the ultrasound registers for patients who had undergone abdominal ultrasound in 16 years (1997-2013). Of the 29 sonographic diagnoses of bilateral PKD made; only 19 had complete records and were included in the study. Data extracted were- age; sex; working diagnosis; renal size; diameter of renal cysts; presence or absence of extrarenal cysts; family history of renal cystic disease; blood pressure at diagnosis; and patient outcome.Results: A total of 19 diagnoses of APKD were made- 12 males and seven females with a sex ratio of 1:0.6. Total mean age was 54.8 years (range 31-79 years)- 40.1 years for females and 57.2 years for males. In 89.5 of cases; no family history of APKD was obtained. Only six (31.6) patients were hypertensive at presentation and three patients (16) were already in renal failure. Ultrasound showed a mean renal size of 88.92 cm 2 for the right kidney and 98.97cm 2 for the left. Mean cyst diameter was 3.46 cm (range 2.08-4.85cm). Only one patient had documented extrarenal cystic disease. Two patients were lost to renal failure and congestive cardiac failure.Conclusion: APKD appears to be uncommon in our environment; however; more studies may be elucidatory. Standard sonographic protocol for collecting data from patients with APKD is needed

Doença renal policística em bezerro / Polycystic kidney disease in a calf

Este relato descreve um caso de doença renal policística em um bovino, macho, mestiço, com um ano de idade. Ao exame clínicoobservou-se estado nutricional ruim, mucosas pálidas, desidratação moderada (8% a 10%), úlceras na região ventral da língua,áreas multifocais de hipotricose recobertas por crostas por todo o corpo e decúbito esterno-lateral permanente. Na avaliação dohemograma observou-se principalmente anemia arregenerativa e leucocitose devido à neutrofilia com desvio à [confirmar] esquerda.Na necropsia, os rins estavam aumentados de volume, pálidos e com a superfície natural finamente irregular. Histologicamente, haviasubstituição quase completa da cortical renal por múltiplos e pequenos cistos, distensão dos espaços de Bowman, regeneraçãotubular, fibrose, edema e leve infiltrado inflamatório linfoplasmocítico intersticial.

This report describes a case of polycystic kidney disease in a male, mixed breed bovine aged one year. On clinical examinationrevealed a poor nutritional status, pallid mucous membranes, moderated dehydration (8 to 10%), ulcers on the ventral portion ofthe tongue, multifocal areas of hypotrichosis covered with scabs throughout the entire body and permanent sternolateral decubitus.The blood exam revealed aregenerative anemia and leukocytosis (neutrophilia) with deviation to the left. The necropsy revealedenlarged, pallid kidneys with a finely irregular natural surface. The histological analysis revealed the nearly complete replacementof the renal cortex by numerous small cysts, distension of the Bowman space, tubular regeneration, fibrosis, edema and mildinterstitial lymphoplasmacytic inflammatory infiltrate.

Actualidad de la enfermedad renalpoliquística / Polycystic Renal Disease: An Update

La enfermedad renal poliquística (PKD) es una enfermedad genética común queconsiste en la aparición progresiva de lesiones quísticas en los riñones, que remplazanel parénquima renal, lo que conduce a enfermedad renal crónica terminal. La PKDtiene dos patrones de herencia: autosómico dominante y autosómico recesivo. Laforma autosómica dominante es más común y menos grave que la autosómica recesiva.Se conoce que la PKD es causada por mutación en varios loci humanos. La formaautosómica dominante puede ser causada por mutaciones en dos genes diferentes(PKD1 y PKD2); en tanto que la forma autosómica recesiva solo tiene un gen causal(PKHD1). Existen numerosas publicaciones que buscan explicar la fisiopatología dela enfermedad. Esto refleja un esfuerzo internacional por comprender la naturalezade la enfermedad, para desarrollar terapias que eviten la aparición de los quistes o laprogresión de los que ya están instaurados. El objetivo de esta revisión es difundirel conocimiento que se tiene hasta el momento, acerca de la enfermedad renalpoliquística. Por lo tanto, realizamos un breve recuento de las características clínicasde la enfermedad y el tratamiento actual disponible...

Polycystic Kidney Disease (PKD) is a commongenetic condition, which is characterizedby gradual appearance of multiple cysts in thekidneys; this causes the destruction of renalparenchyma leading to chronic renal disease.PKD has two patterns of inheritance: autosomaldominant and autosomal recessive. Theautosomal dominant form is more commonand less severe than the autosomal recessive. Itis known that PKD is caused by mutation in severalhuman loci. The autosomal dominant formcan be caused by mutations in 2 different genes(PKD1 and PKD2). The autosomal recessiveform has only one causal gene (PKHD1). Thereare numerous publications worldwide that seekto explain the pathophysiology of the disease;this reflects an international effort to understandthe nature of the disease, to develop therapiesto prevent the appearance of cysts or the progressionof those already existent lesions. The objectiveof this review is to update the knowledge wehave so far, about polycystic kidney disease thereforewe decided to conduct a brief review ofthe clinical features of disease and the treatmentavailable today...

Meckel gruber syndrome: second trimester diagnosis of a case in a non-consanguineous marriage

Meckel-Gruber Syndrome [MKS] is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section [LSCS] and leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage

Riñón en herradura asociado a poliquistosis renal / Horseshoe kidney associated with polycystic kidney disease

Este trabajo describe la variante anatómica en un caso incidental de disección en la Escuela de Medicina de la Universidad de Ciencias Médicas, el cual presenta un riñón en herradura con variante arteriovenosa que consta de cinco arterias renales y cuatro venas renales asociado poliquistosis renal...

Doença renal policística autossômica recessiva: relato de caso e revisão de literatura / Autosomal recessive polycystic kidney disease: case report and review

A doença renal policística autossômica recessiva é uma desordem herdada com dilatações císticas nos ductos coletores freqüentemente associada com envolvimento hepático, hipertensão, insuficiência renal, hipertensão portal e retardo de crescimento. Mutações no gene PKHD1 (polycystic kidney and hepatic disease 1) são responsáveis por todas as formas típicas desta enfermidade. Criança do sexo feminino, recém-nascida, primogênita de uma gestação normal, com peso de 2.470g apresentou massa abdominal palpável. A família não apresenta história para doença policística renal. Hipertensão arterial foi diagnosticada aos três meses. Exames laboratoriais normais. Tomografia abdominal demonstrou que ambos os rins estavam aumentados (7,8cm para o rim direito e 7,9cm rim esquerdo, em plano longitudinal), apresentando hiperecogenicidade cortical e fígado normal. A pressão arterial está parcialmente controlada com captopril, hidralazina e hidroclorotiazida após um ano de seguimento. Apresenta desenvolvimento neurológico e função renal normais. A grande maioria das crianças afetadas com ARPKD desenvolvem precocemente hipertensão arterial e precisam de rigoroso controle. Relatamos um caso diagnosticado ao nascimento e bem controlado clinicamente até o momento, com um ano de idade.

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder with cystic dilatations of the collecting ducts, frequently associated with hepatic involvement, hypertension, renal failure, portal hypertension and growth retardation. Mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene are responsible for all typical forms of this disease. A female newborn, firstborn of a normal pregnancy, weighing 2,470 g, presented palpable bilateral abdominal masses. Family history was negative for polycystic kidney disease. Arterial hypertension was diagnosed at three months of age. Laboratory tests were normal. Abdominal CT scan showed that both kidneys were enlarged (right kidney with 7.8 cm and left kidney with 7.9 cm, longitudinal plane), presenting cortical hyperechogenicity, and normal liver. Blood pressure was partially controlled by captopril, hydralazine and hydrochlorothiazide after one year of follow-up. The patient presents normal neurological development and normal kidney function. Children affected with ARPKD frequently develop arterial hypertension and require rigorous control. We report a case diagnosed at birth and clinically well-controlled so far, at the age of one year.

Clinico-pathological profile of 22 cases of cystic renal dysplasia.

Renal dysplasia is one of the major renal developmental anomaly characterized by abnormal structural organization and development of metanephric elements. It is usually detected antenatally or in early childhood. The kidney may be multicystic, aplastic, hypoplastic or duplex. We studied 22 cases of cystic renal dysplasia diagnosed over a period often years to identify the spectrum of morphological changes in dysplastic kidney, with special emphasis on mesenchymal changes. Clinical, radiological and gross morphologicalfeatures were noted. Microscopic features were studied in detail, including the epithelial and mesenchymal changes. Twenty-one of the 22 cases studied were children. One case was a 21-year-old adult, which is a rare age at presentation. Male to female ratio was 1.1:1. One of our patients had contra-lateral ureteric stenosis, a rare anomaly reported with renal dysplasia. Ten patients, all autopsy cases, had multi-system congenital anomalies. As cystic renal dysplasia is not a hereditary disease, it must be differentiated from polycystic kidney disease. Other differential diagnoses are cystic nephroma and cystic partially differentiated nephroblastoma. Histopathological examination is the final diagnostic tool since radiological features alone may not be sufficient to exclude other cystic renal lesions. Cartilage may not be seen in all cases of renal dysplasia. Once diagnosed, other associated anomalies should also be looked for.

[Meckel Gruber syndrome a case report]

Meckel Gruber syndrome is a rare lethal autosomal recessive disorder characterized by a clinical and genetical heterogenicity. Currently, the diagnosis is based on some major criteria: occipital meningo-encephalocele, bilateral polycystic displastic kidneys and postaxial polydactily. Prenatal diagnosis by a transvaginal ultrasound is possible at the 11th week of gestation justifying therapeutic abortion. The prevalence little valued in our country and the variability of the genes according to ethnics as well as their expression phenotypic in the same ethnic opens perspectives in the fundamental research as for the positioning of genes and the survey of their expression

Implicancias urológicas de la esclerosis tuberosa / Renal involvement in tuberous sclerosis

Presentamos dos casos observados en nuestro Servicio de portadores de la Enfermedad de Bourneville o Esclerosis Tuberosa con manifestación renal. Actualizamos las implicancias médico-asistenciales de este infrecuente síndrome. Revisamos nuestra experiencia frente a los angiomiolipomas renales en sus distintas variables, los métodos de diagnóstico, sus constantes imagenológicas, su tratamiento actual y la conducta seguida por nosotros. Efectuamos una revisión bibliográfica nacional e internacional sobre el tema

Enfermedad renal poliquística autosómica recesiva. Forma de presentación y curso clínico / Autosomal recessive policystic disease. Clinical presentation and outcome

La enfermedad renal poliquística autosómica recesiva es en pediatría la forma más frecuente de enfermedad renal poliquistica. Compromete riñon o higado en la infancia. Utilizando un diseño de estudio retrospectivo y observacional, evaluamos curso clínico y pronóstico de esta patología en 36 pacientes ingresados al Hospital Garrahan entre los años 1988 y2004. La sobrevida actuarial de pacientes fue de 94% (5a), 90% (10 y 15a) y la función renal de 84% (5a), 80% (10a) y 70% (15a). Esta revisión muestra un relativo buen pronóstico para los pacientes que sobreviven al período neonatal y sugiere la necesidad de un cuidadoso control de la hipertensión anterial, enfermedad renal progresiva e hipertensión portal.

Quistectomía laparoscópica reductiva en enfermedad poliquística del adulto / Laparoscopic reductive surgery in polycystic renal disease

La enfermedad poliquística del adulto es una enfermedad autosómica dominante que se manifiesta habitualmente con la presencia de quistes renales que producen dolor abdominal y, eventualmente, hipertensión arterial (HTA) y deterioro de la función renal en la medida que crecen y atrofian el parénquima. Se presenta el caso de un paciente de 55 años, portador de enfermedad poliquística del adulto asociada a HTA y dolor intratable, a quien se somete a cirugía reductiva laparoscópica renal bilateral y quistectomía hepática. Con la cirugía se logra el control del dolor y la disminución de la terapia antihipertensiva,resultados que se mantienen en un seguimiento de 2 años. Actualmente, el paciente presenta parámetros de función renal normal.

Doença renal policística: atualizaçäo da patogenia / Policystic kidney diseases: update of pathogeny

Este artigo foi dividido em duas partes. A primeira consiste em breve revisäo da classificaçäo e características clínicas e diagnósticas das doenças renais policísticas (DRP), principalmente nas suas formas hereditárias. A segunda parte é composta por uma revisäo atualizada da patogenia das doenças císticas renais, onde säo comentados os possíveis mecanismos e hipóteses para a formaçäo e expansäo dos cistos, com alguns diagramas pessoais elucidativos, incluindo a cistogênese da doença renal císitica adquirida (DRCA), uma vez que parece haver um denominador comum ou mecanismo unificador na formaçäo dos cistos em todas as formas de doenças císticas.