[Effect of renin-angiotensin system in Fabry disease associated proteinuria]. / Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry.

AIM: To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. MATERIAL AND METHODS: We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. RESULTS: Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. CONCLUSIONS: Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients.

Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry / Effect of renin-angiotensin system in Fabry disease associated proteinuria

Objetivo. Describir la prevalencia de afectación renal y evaluar el papel del bloqueo del sistema renina-angiotensina en el tratamiento de la nefropatía en la enfermedad de Fabry (EF). Material y métodos. Se estudió una familia de ocho miembros afectados por la EF, diagnosticada mediante estudio bioquímico de la enzima deficitaria y la demostración de la mutación. Durante los 3 años de seguimiento se realizaron determinaciones seriadas cada seis meses, de creatinina, urea, aclaramiento de creatinina, sedimento urinario, microalbuminuria y proteinuria en orina, así como control de la tensión arterial y de la glucemia. En el momento de la detección de microalbuminuria, se inició tratamiento con inhibidores de la enzima convertidora de la angiotensina (IECA) o antagonistas de los receptores de angiotensina II (ARA II). Al final del seguimiento se realizó ecografía renal simple y doppler. Resultados. Seis de los ocho pacientes estudiados presentaron microalbuminuria en algún momento de la evolución, de los cuales sólo uno no desarrolló proteinuria franca. El tratamiento IECA produjo una disminución de la cuantía de la proteinuria en todos los pacientes, llegando ésta a desaparecer en cuatro casos, en uno persistió proteinuria franca y en el restante microalbuminuria. La afectación renal apareció de forma independiente al tratamiento enzimático sustitutivo. La ecografía renal no reveló alteraciones significativas en los pacientes sin alteración urinaria en el momento de la realización, y tan sólo en un caso detectó un leve aumento de los índices de resistencia, en el caso de la paciente que presentaba proteinuria persistente. Conclusiones. La afectación renal manifestada como microalbuminuria/proteinuria se da en la mayoría de los pacientes con EF (en 6/8 en nuestra serie). En este contexto, los IECA constituyen un buen tratamiento y conducen con frecuencia a la desaparición de la proteinuria (4/6). Dado lo pequeño de la serie, estos datos están por confirmar con series mayores de casos. La ecografía renal doppler no detecta lesión renal precoz en los pacientes con EF, pero dado lo inocuo de la técnica debería recomendarse su realización de rutina. Hasta el momento ésta es la primera serie que analiza el efecto del bloqueo del sistema renina-angiotensina que ha sido publicada (AU)

Aim. To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. Material and methods. We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. Results. Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. Conclusions. Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients (AU)

[Mucinous adenocarcinoma of the appendix associated with ovarian tumors and pseudomyxoma peritonei. The difficulty in differential diagnosis]. / Adenocarcinoma mucinoso de apéndice asociado con tumores ováricos y pseudomixoma peritonei. Dificultad en el diagnóstico diferencial.

Mucinous adenocarcinoma of the appendix is rare. If there is a concomitant ovarian tumor to determine the primary might be difficult. Histological features are not always determinant, but there are some macroscopic findings that may suggest an origin in the appendix. We report a case of synchronous tumors in appendix and ovaries with pseudomyxoma peritonei. The patient presented with mass sensation in the right lower quadrant, asthenia, anorexia and weight loss. Abdominal ultrasound and CT scan showed a tumor involving cecum, appendix, terminal ileum and pelvis. Findings on colonoscopy and biopsies were inconclusive. At laparotomy, the tumor compressed appendix, cecum and ascendant colon, terminal ileum, ovaries and peritoneum. Histopathological analysis demonstrated a well-differentiated mucinous adenocarcinoma of appendiceal origin with metastasis in ovaries and peritoneum (pseudomyxoma peritonei).

Adenocarcinoma mucinoso de apéndice asociado con tumores ováricos y pseudomixoma peritonei. Dificultad en el diagnóstico diferencial / Mucinous adenocarcinoma of the appendix associated with ovarian tumor and pseudomyxoma peritonei: a difficult differential diagnosis

El adenocarcinoma mucinoso de apéndice es raro. Si existe un tumor ovárico concomitante, determinar cual es el origen del tumor primario puede ser difícil. Las características histopatológicas no son siempre concluyentes pero hay algunos hallazgos macroscópicos que pueden sugerir que el origen es en el apéndice. Presentamos el caso de tumores sincrónicos en apéndice y ovarios con pseudomixoma peritonei. La paciente presentaba sensación de masa en cuadrante inferior izquierdo con astenia, anorexia y pérdida de peso. En la ecografía abdominal y la TAC se evidenció un tumor que se extendía a ciego, apéndice, ileon terminal y pelvis. Los hallazgos de la colonoscopia y las biopsias no fueron concluyentes. En la laparotomía, el tumor abarcaba apéndice, ciego y cólon ascendente, íleon terminal, ovarios y peritoneo. El examen histológico demostró un adenocarcinoma mucinoso bien diferenciado con metástasis en ovario y peritoneo (pseudomixoma peritonei) (AU)