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.

Hidronefrosis como causa de poliglobulia secundaria / Hydronephrosis as a cause of secondary polyglobulia

La policitemia primaria es producida por una mutación adquirida o heredada en las células progenitoras de los glóbulos rojos, mientras que la poliglobulia secundaria está relacionada con un aumento de la eritropoyetina sérica como respuesta a la hipoxia tisular o a la producción autónoma tumoral. Hace más de medio siglo que se conoce que la hidronefrosis puede actuar como una rara causa de eritrocitosis debido al aumento de producción de eritropoyetina por un riñón que censa una disminución de oxígeno, mecanismo también observado en la estenosis de la arteria renal y en los quistes renales. Se describe a continuación el caso de un paciente de 38 años con poliglobulia atendido en el Hospital Italiano de San Justo (Argentina), que presenta como hallazgo una hidronefrosis unilateral severa y cuya resolución quirúrgica a través de una nefrectomía revierte el cuadro hematológico de base. (AU)

Primary polycythemia is produced by an acquired or inherited mutation in progenitor cells of red blood cells, while secondary polyglobulia is related to an increase in serum erythropoietin in response to tissue hypoxia or autonomous tumor production. Since the middle of the twentieth century, the hydronephrosis is known to be a rare etiology of secondary polycythemia, with increased erythropoietin production caused by diminished oxygen sensing by the kidney, also seen in renal artery stenosis and kidney cysts. We describe a case of a 38 year old patient with polycythemia studied in the "Hospital Italiano de San Justo" (Argentina) that presented an incidental severe unilateral hydronephrosis, and nephrectomy was carried out as a final resolution of the hematological disorder. (AU)

Doença cística adventicial da artéria radial / Adventitial cystic disease of the radial artery

A doença cística adventicial (DCA) da artéria radial é uma condição rara, com poucos casos descritos na literatura. Relatamos o caso de um paciente do sexo masculino, 62 anos, branco, diabético, hipertenso, com insuficiência renal crônica e indicação para terapia substitutiva renal, em quem foi encontrada uma lesão cística da artéria radial durante operação para confecção de fistula arteriovenosa para hemodiálise. Após a dissecção da artéria radial, ficou evidenciado um importante envolvimento do vaso por uma formação cística. A técnica cirúrgica adotada foi a ressecção do segmento cístico comprometido e preservação da artéria radial. A confecção da fistula arteriovenosa foi realizada com sucesso. O diagnóstico precoce e o tratamento adequado da DCA mostram se eficientes e podem prevenir complicações e recidivas

Adventitial cystic disease (ACD) of the radial artery is a rare condition, with few cases described in the literature. We report the case of a 62-year-old white male with a history of diabetes, hypertension, and chronic kidney disease with indications for renal replacement therapy who was found to have a cystic lesion of the radial artery while undergoing surgical creation of an arteriovenous fistula. The surgical technique adopted was resection of the cystic segment and preservation of the radial artery. Fistula creation was completed successfully. Early diagnosis and appropriate treatment of ACD are effective, and can prevent complications and recurrence.

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

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

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

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

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

Natural 10-year history of simple renal cysts

PURPOSE: To carry out long-term follow-up of patients diagnosed with asymptomatic simple renal cysts (SRCs). MATERIALS AND METHODS: One hundred fifty-eight adult patients in whom SRCs were incidentally diagnosed by abdominal ultrasonography or abdominopelvic computed tomography between August 1994 and June 2004 were followed up for over 10 years. The retrospective analysis investigated sequential changes in the size, shape, and Bosniak classification of the renal cyst and analyzed risk factors for increased size and growth rate of the cysts. RESULTS: The median follow-up period was 13.9 years (range, 10.0-19.8 years). Median patient age was 54.1 years (range, 22-86 years). Mean maximal cyst size was 33 mm (range, 2-90 mm). Among all patients, 120 (76%) showed a mean increase in maximum renal cyst diameter of 1.4 mm (6.4%) per year. Age at initial diagnosis was a risk factor for increased renal cyst maximum diameter. The probability of an increase in maximum diameter of an SRC was 7.1 times greater in patients aged 50 years or older at diagnosis than in those aged less than 50 years. However, among patients with an increased maximum diameter, the mean growth rate was lower in patients aged > or =50 years than in those aged <50 years. CONCLUSIONS: About three-quarters of adult patients with accidentally diagnosed SRCs presented with an increased maximum diameter. The only risk factor for an increase in maximum diameter was age. In patients with an increase in the maximum diameter, the growth rate of the maximum diameter was 6.4% per year during 10 years and decreased with age.

Nefroma quístico en la infancia / Cystic nephroma in childhood

Nefroma quístico (NQ) es una lesión quística multilocular neoplásica del riñón que cae en un espectro de enfermedades. Existe cierto debate acerca de si estas lesiones representan un espectro de una enfermedad con una etiología común. Un quiste multilocular no es un segmento renal afectado por la enfermedad renal multiquística ya que estas condiciones difieren clínica, histológica y radiográficamente. Sin embargo, la controversia continua sobre si el quiste multilocular es una forma de displasia renal segmentaria. El nefroma quístico es una lesión renal característica con un comportamiento bimodal y un curso clínico benigno. Presenta un peak de distribución en los primeros 2 a 3 años, sobretodo en hombres y otro peak en la 4ª y 5ª década de la vida con un aumento significativo de su prevalencia en mujeres. El diagnóstico pre-operatorio preciso para diferenciar el NQ de otras entidades quísticas renales malignas puede ser imposible sólo con el examen clínico y radiológico; es la histopatología la que provee el diagnóstico final. Se hace una revisión del NQ con especial interés en la afectación en los pacientes pediátricos.

Cystic nephroma (NQ) is a multilocular cystic neoplasm of the kidney that falls on a spectrum of diseases. There is some debate about whether these lesions represent a spectrum of disease with a common etiology. A cyst is not multilocular renal segment affected by multicystic kidney disease because these conditions differ clinically, histologically and radiographically. However, the controversy continue over whether the multilocular cyst is a form of segmental renal dysplasia. Cystic nephroma is a renal lesion with characteristic bimodal behavior and a benign clinical course. Distribution presents a peak in the first 2 to 3 years, especially in men and another peak in the 4 th and 5 th decade of life with a significant increase in its prevalence in women. The accurate preoperative diagnosis to differentiate NQ from other malignant cystic kidney entities may not be possible only with the clinical and radiological examination, histopathology is that provided the final diagnosis. A review of NQ with emphasis on involvement in pediatric patients it is made.

Enfermedad de hígado poliquístico asociado con quiste esplénico / Polycystic liver disease associated with splenic cyst

La enfermedad poliquística del hígado en el adulto es una condición infrecuente y benigna, autosómica dominante, asociada con frecuencia a enfermedad poliquística renal. Se caracteriza por la formación de quistes hepáticos numerosos, con o sin afectación renal. Algunos otros factores probablemente implicados en su génesis son la edad, sexo femenino, embarazo, y el uso de anticonceptivos orales. Las terapias quirúrgicas incluyen la aspiración percutánea del quiste con el escleroterapia, fenestración laparoscópica, fenestración laparotómica, la resección del hígado y el trasplante del hígado. Caso: Hombre de 50 años de edad con diagnóstico de hígado poliquístico asociado a un quiste esplénico diagnosticado por TAC abdominal y que se trató con una técnica de videoloparoscopia. Conclusión: La intervención quirúrgica para la enfermedad del hígado poliquístico sintomático se ha asociado a una morbilidad significativa. La fenestración videolaparoscópica de los quistes es un método seguro y extremadamente efectivo y se debe considerar como tratamiento inicial para la enfermedad del hígado poliquístico.

Polycystic liver in the adult is a rare and benign, autosomal dominant disorder, frequently associated with renal polycystic disease. It is distinguished by formation of numerous hepatic cysts, with or without renal involvement. Some other factors are also thought to be involved in its genesis, such as age, female gender, pregnancy, and the use of oral birth control pills. Surgical therapies include percutaneous cyst aspiration with sclerotherapy, laparoscopic fenestration, open fenestration, liver resection and fenestration and liver transplantation. Case: Polycystic liver disease associated with splenic cyst was diagnosed in a 50 years old man by abdominal computed tomography imaging and videolaparoscopic finding. Conclusion: Surgical intervention for symptomatic polycystic liver disease has been associated with significant morbidity. Laparoscopic cysts fenestration was safe and extremely effective and should be considered as initial treatment for polycystic liver disease.

Percutaneous Treatment of Renal Cysts with OK-432 Sclerosis

PURPOSE: The aim of this study was to demonstrate OK- 432 sclerotherapy efficacy for treatment of simple renal cysts. MATERIALS AND METHODS: Twenty patients with 25 symptomatic or large simple cysts were treated by ultrasonography (US)-guided percutaneous aspiration and injection of OK-432 (8 men and 12 women, mean age 63.6 years, SD 9.5). Six patients presented with flank pain, 14 presented with renal mass; renal cyst location was right, left, or bilateral sided in 9, 8, and 8 kidneys, respectively. Patients were evaluated by clinical assessment, US, or CT scan 3 months following the procedure. Complete and partial success was defined as symptom resolution with either total cyst ablation or greater than 70% reduction, respectively. Failure was defined as 30% of cyst size recurrence and/or persistent symptoms. RESULTS: Average reduction was 93.0%. Complete and partial resolution occurred in 11 (44.0%) and 13 (52.0%) cysts, respectively. One case was defined as failure, with a 64.2% size reduction from 10.9cm to 3.9cm (volume reduction rate 95.4%). Renal pain improved in all patients, regardless of complete or partial resolution. Minor complications occurred in 3 patients, 2 developed leukocytosis and 1 had mild fever (< 38.5 degrees C) following aspiration and sclerotherapy. Successful treatment was achieved with conservative measures and NSAID therapy. CONCLUSION: Percutaneous treatment of simple renal cysts with OK-432 sclerotherapy was found to be a safe, effective and minimally invasive procedure.

Cystic renal cell carcinoma arising from multilocular cystic nephroma of the same kidney

Multilocular cystic nephroma is an uncommon benign entity grouped among the cystic non-genetic diseases. It is characterized by variable-sized, non-communicating cysts separated by irregular thin walled septa. Though multilocular cystic nephroma is usually considered a benign lesion, malignant changes in the cysts should not be overlooked.

Nefroma cístico multilocular benignoÄrelato de um caso / Benign multilocular cystic nephroma: a case report

Nefroma cístico multilocular benigno é uma neoplasia renal incomum, consistindo de múltiplos cistos näoÄcomunicantes.Neste trabalho érelatado um caso cujos achados à ultraÄsonografia e tomografia computadorizada foram característicos desta lesäo.O diagnóstico específico de nefroma cístico multilocular benigno permite limitar o procedimento cirúrgico, evitandonefrectomia desnecessária.

Las lesiones quísticas renales de la infancia / Renal cystic lesions in childhood

Los quistes renales constituyen un grupo heterogéneo de enfermedades, algunas hereditarias y otras adquiridas. La ausencia de una clasificación adecuada ha creado confusión en su estudio. Se realizó un estudio retrospectivo de 1974 a 1983; se encontraron 30 casos con lesiones quísticas renales; la edad varió de 0 a 2 años en el 86.6%, predominando el sexo masculino (23/30). La lesión más frecuente fue la displasia renal (30%). El uso de la clasificación de Bernstein permitió agrupar a los pacientes en seis categorias facilitando su estudio