Paciente trasplantado renal con disminución del nivel de conciencia de etiología poco frecuente: a propósito de un caso / Kidney transplant patient with a decreased level of consciousness of unusual aetiology: A case report

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Respiratory distress syndrome caused by influenza H1N1 in a patient with a simultaneous pancreas-kidney transplantation.

Adult respiratory distress syndrome is a severe respiratory failure due to noncardiogenic pulmonary edema with high mortality rates (50-70%). The most common etiology of respiratory distress is sepsis, but it may also be caused by several of the immunosuppressants prescribed in transplantation. In the last year, influenza H1N1 virus infection has become more relevant. It has shown a greater incidence among immunosuppressed patients as well as those with chronic kidney disease or diabetes mellitus. We present the case of a patient with simultaneous pancreas-kidney transplantation who presented respiratory distress after the second dose of thymoglobulin. Initially, we interpreted that the thymoglobulin was the cause, so it was replaced with basiliximab. Empirical treatment was started with 3 doses of 6-methylprednisolone (250 mg), with a favorable response. After 7 days, we received the results of the reverse-transcriptase polymerase chain reaction of a nasal smear and blood culture, which were positive for H1N1 virus. In our knowledge, this is the first reported case of a patient with simultaneous pancreas-kidney transplantation and respiratory distress secondary to H1N1 virus infection who showed a favorable response to corticosteroid therapy.

Tuberous sclerosis associated with polycystic kidney disease: effects of rapamycin after renal transplantation.

Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary in order to attain the effective doses due to the enzymatic induction caused by concomitant treatment with antiepileptic drugs. These high doses resulted in nephrotoxicity. Immunosuppressor treatment was switched to rapamycin, whereby an improvement in renal function and other signs of tuberous sclerosis and polycystic kidney disease was observed. This case report highlights both the efficacy and safety of rapamycin as an immunosuppressor treatment and its capacity for controlling other symptoms of these genetic-related disorders.

Hemólisis intravascular y fracaso renal / Intravascular haemolysis and renal failure

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Tuberculosis de localización atípica en trasplantados renales / Atypical localisation of tuberculosis in kidney transplants

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Análisis clínico de una población con poliquistosis renal autosómica dominante / Clinical analysis of a population with autosomal dominant polycystic kidney disease

La poliquistosis renal autosómica dominante es una enfermedad hereditaria multiorgánica, responsable del 7-10% de los casos de insuficiencia renal crónica terminal que precisan tratamiento renal sustitutivo, causada por mutaciones en los genes PKD1 y PKD2. El diagnóstico de esta enfermedad puede realizarse fácilmente mediante pruebas radiológicas; la ecografía constituye el método de elección, pero el diagnóstico molecular ofrece la ventaja de la detección precoz de individuos asintomáticos portadores del defecto genético. En este trabajo, presentamos los resultados del análisis clínico de 48 pacientes diagnosticados de poliquistosis renal autosómica dominante. Los objetivos de nuestro trabajo fueron analizar los principales aspectos clínicos de la enfermedad, las causas de morbimortalidad e identificar a los individuos de riesgo afectados y sus manifestaciones clínicas precoces. En nuestro estudio, la hipertensión arterial fue la manifestación inicial más frecuente (68,42%), mientras que en la evolución de la enfermedad lo fue la insuficiencia renal crónica (100%). A pesar de que la edad media del diagnóstico de la poliquistosis renal en este estudio fue menor en las mujeres, la evolución de la enfermedad fue más tórpida en los hombres, lo que determinó el inicio más precoz del tratamiento renal sustitutivo y, consecuentemente, la mayor mortalidad. En este estudio se observó una prevalencia similar de muertes de origen cardiovascular (42,1%) e infeccioso (42,1%). En resumen, nuestros resultados revelan una alta prevalencia de pacientes con poliquistosis renal diagnosticados tardíamente, lo que podría explicar la elevada morbimortalidad. Dada la alta prevalencia de insuficiencia renal crónica e insuficiencia renal crónica terminal secundaria a poliquistosis renal en nuestro estudio, el diagnóstico precoz de la poliquistosis conllevaría un mejor pronóstico en relación con un seguimiento clínico más estricto. Por tanto, al ser la hipertensión arterial la manifestación clínica más frecuente en el momento del diagnóstico, debería incluirse esta entidad nosológica en todos los casos con hipertensión arterial de etiología no filiada y, por otra parte, las complicaciones infecciosas deberían ser un signo de alerta en todo paciente con poliquistosis renal autosómica dominante (AU)

Autosomal dominant polycystic kidney disease is a multi-organic hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the clinical analysis of 48 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the main clinical aspects of the disease. The average age of appearance of the first symptoms was 41.17 ± 13.41 years in women and 49.91 ± 12.52 years in men (p <0.05). Arterial hypertension was the first sign of the disease (68.42%), with more cases in men than in women (p <0.05), followed by chronic renal failure (68.29 %). The most common renal symptom during the evolution of the disease was chronic renal failure, which was present in all the patients of the study, followed by proteinuria (92.31%), end-stage renal failure (89.58%) and arterial hypertension (87.23%). In summary, our results reveal a high prevalence of patients with polycystic kidney disease who received a late diagnosis. This could possibly explain the high morbi-mortality associated to this condition. Given the high prevalence of chronic renal failure and end-stage renal failure secondary to polycystic kidney disease in our study, the early diagnostic of the disease would carry better pronostic in relation with a more strict clinical follow-up. The arterial hypertension was the most frequent clinical manifestation of the disease in our study by what this entity should be included in all the hypertense patients of unknown etiology and on the other hand, the infectious complications should be a sign of alert in every patient with polycystic kidney disease (AU)

[Clinical analysis of a population with autosomal dominant polycystic kidney disease]. / Análisis clínico de una población con poliquistosis renal autosómica dominante.

Autosomal dominant polycystic kidney disease is a multiorgan hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the clinical analysis of 48 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the main clinical aspects of the disease. The average age of appearance of the first symptoms was 41.17 +/- 13.41 years in women and 49.91 +/- 12.52 years in men (p < 0.05). Arterial hypertension was the first sign of the disease (68.42%), with more cases in men than in women (p < 0.05), followed by chronic renal failure (68.29 %). The most common renal symptom during the evolution of the disease was chronic renal failure, which was present in all the patients of the study, followed by proteinuria (92.31%), end-stage renal failure (89.58%) and arterial hypertension (87.23%). In summary, our results reveal a high prevalence of patients with polycystic kidney disease who received a late diagnosis. This could possibly explain the high morbi-mortality associated to this condition. Given the high prevalence of chronic renal failure and endstage renal failure secondary to polycystic kidney disease in our study, the early diagnostic of the disease would carry better prognostic in relation with a more strict clinical followup. The arterial hypertension was the most frequent clinical manifestation of the disease in our study by what this entity should be included in all the hypertense patients of unknown etiology and on the other hand, the infectious complications should be a sign of alert in every patient with polycystic kidney disease.

Análisis genético (PKD2) de la poliquistosis renal autosómica dominante / No disponible

La poliquistosis renal autosómica dominante (PQRAD) es una enfermedad hereditaria multiorgánica, caracterizada por un progresivo crecimiento y desarrollo de quistes renales que destruyen el parénquima funcional. Es responsable del 7-10% de los casos de insuficiencia renal crónica terminal que precisan tratamiento renal sustitutivo, causada por mutaciones en los genes PKD1 y PKD2. Las dos formas de PQRAD tienen una patogenia y clínica similar, pero en los pacientes con mutación en PKD2, las manifestaciones clínicas aparecen más tarde y la progresión a nefropatía terminal acontece 10 años más tarde que en los pacientes con mutación en PKD1. El diagnóstico de esta enfermedad puede realizarse fácilmente mediante ecografía, pero el diagnóstico molecular ofrece la ventaja de la detección precoz de individuos asintomáticos portadores del defecto genético. En este trabajo, presentamos los resultados del análisis genético (PKD2) de 18 pacientes diagnosticados de PQRAD. Los objetivos de nuestro trabajo fueron comparar la rentabilidad del estudio genético respecto al radiológico, realizar un diagnóstico genético precoz en los descendientes de pacientes afectados, e intentar establecer una correlación fenotipo- genotipo en los pacientes con mutación en PKD2. Tras el análisis genético, sólo se diagnosticó a una familia (5,56 %) con mutación en el exón 13 del gen PKD2, consistente en una sustitución del nucleótido adenosina por citosina (c.2398A>C) que implicaba el cambio del aminoácido metionina por leucina (p.800Met>Leu). En nuestra población, contrariamente a lo publicado, la mutación sí se segregó con la enfermedad, y todos los miembros con diagnóstico clínico y de imagen de PQRAD presentaron dicha mutación. Dada la alta prevalencia de insuficiencia renal crónica e insuficiencia renal crónica terminal secundaria a poliquistosis renal en nuestro medio, el diagnóstico genético precoz de la poliquistosis renal conllevaría mejor pronóstico en relación con un seguimiento clínico más estricto (AU)

Autosomal dominant polycystic kidney disease is a multiorganic hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. Both polycystic kidney disease¿s forms have a pathogeny and similar clinic, but in the patients with mutation in PKD2, the clinical manifestations appear later and the progression to end stage renal failure happens 10 years later than in the patients with mutation in PKD1. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the mutational analysis of the PKD2 gene in 18 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the profitability of the genetic study compared with the radiologic study, and perform an early genetic diagnosis in the descendants of patients who were affected by a mutation in the PKD2 gene, trying to establish a correlation between phenotype and genotype. After the genetic analysis, only one family was diagnosed with a mutation in exon 13 of the PKD2 gene (5.56%), which consists on a substitution of the nucleotide adenosine by cytosine (c.2398A>C), which implies that the amino acid methionine is replaced by leucine (p.800Met>Leu). In our population, contrary to what was published in the literature, the mutation of the gene was clinically significant and did segregate with the disease. All the members with a clinical and ultrasound diagnosis of polycystic renal disease presented the abovementioned mutation. We could not confirm any clinicalgenetic correlation. Due to the high prevalence of chronic renal failure and terminal chronic renal failure secondary to polycystic kidney disease in our study, an early genetic diagnosis would involve a better prognosis in connection with a closer clinical monitoring (AU)

[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. / Análisis genético (PKD2) de la poliquistosis renal autosómica dominante.

Autosomal dominant polycystic kidney disease is a multi-organic hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. Both polycystic kidney disease's forms have a pathogeny and similar clinic, but in the patients with mutation in PKD2, the clinical manifestations appear later and the progression to end stage renal failure happens 10 years later than in the patients with mutation in PKD1. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the mutational analysis of the PKD2 gene in 18 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the profitability of the genetic study compared with the radiologic study, and perform an early genetic diagnosis in the descendants of patients who were affected by a mutation in the PKD2 gene, trying to establish a correlation between phenotype and genotype. After the genetic analysis, only one family was diagnosed with a mutation in exon 13 of the PKD2 gene (5.56%), which consists on a substitution of the nucleotide adenosine by cytosine (c.2398A>C), which implies that the amino acid methionine is replaced by leucine (p.800Met>Leu). In our population, contrary to what was published in the literature, the mutation of the gene was clinically significant and did segregate with the disease. All the members with a clinical and ultrasound diagnosis of polycystic renal disease presented the above mentioned mutation. We could not confirm any clinical-genetic correlation. Due to the high prevalence of chronic renal failure and terminal chronic renal failure secondary to polycystic kidney disease in our study, an early genetic diagnosis would involve a better prognosis in connection with a closer clinical monitoring.

Non-skin solid tumors as a cause of morbidity and mortality after liver transplantation.

The use of immunosuppressive agents in renal transplant recipients increases the risk of tumor development. The global incidence of tumors in renal transplant recipients is 4% to 18% and is especially high for skin lesions, non-Hodgkin lymphoma, and genital malignancy but not for lung, breast, prostate gland, or colorectal lesions. Between May 1983 and May 2008, we performed 663 renal transplantation procedures; 85.5% were first transplantation procedures. Mean patient age was 46.93 years. Patients received treatment with combinations of immunosuppressive agents including corticosteroids, cyclosporine, OKT3, mycophenolate mofetil, tacrolimus, azathioprine, and basiliximab or daclizumab. The incidence of nonskin tumors was 4.07%. Mean age at diagnosis was 61.41 years, mean interval between transplantation and diagnosis of tumor was 6.04 years, and mean duration of graft function was 7.59 years. Mortality was due to tumor in 20.14% of patients, and of those with cancer, 74.07% died; all patients who died had a functioning graft. The most common malignant lesions were lung cancer in men and breast cancer in women. The incidence of nonskin tumors was lower than that in published series, probably because of routine screening of patients while on the waiting list and in transplant recipients with functioning grafts.

Interferon-alpha and its deleterious effects on kidney transplant: regarding one case

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Causa poco frecuente de hipertrigliceridemia en el trasplante renal / No disponible

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Varón de 48 años con infarto renaly trombofilia / No disponible

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