Conceptos Categóricos

ACTUALIZACION SOBRE LA CISTINURIA EN PACIENTES PEDIATRICOS

ACTUALIZACION SOBRE LA CISTINURIA EN PACIENTES PEDIATRICOS

(especial para SIIC © Derechos reservados)
El tratamiento exitoso de la cistinuria requiere la elevada adhesión de los pacientes a largo plazo, los exámenes regulares de seguimiento y, si es necesario, las intervenciones urológicas.
krombach9.jpg Autor:
Patrick Krombach
Columnista Experto de SIIC

Institución:
Urologische Klinik, Klinikum Mannheim


Artículos publicados por Patrick Krombach
Coautores
Peter Alken* Thomas Knoll* 
PhD, Urologische Klinik, Klinikum Mannheim, Mannheim, Alemania*
Recepción del artículo
26 de Mayo, 2006
Aprobación
12 de Julio, 2006
Primera edición
9 de Enero, 2007
Segunda edición, ampliada y corregida
13 de Diciembre, 2007

Resumen
La cistinuria, un trastorno autosómico recesivo del transportador de aminoácidos del túbulo renal, es la causa de hasta el 10% de los cálculos renales observados en los niños. Los cálculos están formados por cistina, que es relativamente insoluble al pH urinario ácido fisiológico. Se conocen diversos métodos preventivos, pero su efectividad varía de mediocre a mala. Para la metafilaxis médica, los resultados a largo plazo son malos debido a la eficacia insuficiente y a la baja adhesión de los pacientes. Hasta el 70% de los enfermos presentará deterioro renal como consecuencia de la formación recurrente de cálculos y las intervenciones repetidas. Sin embargo, los exámenes de seguimiento regulares y la farmacoterapia óptima en pacientes con elevada adhesión prolongan significativamente los intervalos libres de cálculos y minimizan el número de intervenciones requeridas, con la consiguiente mejora en su vida social. La metafilaxis médica se basa principalmente en la hiperhidratación y la alcalinización de la orina. Si esto es insuficiente, pueden agregarse agentes sulfhidrilos como la tioponina. La formación recurrente de cálculos conlleva la necesidad de intervenciones urológicas repetidas, con el riesgo de deterioro consecutivo de la función renal; aunque estas intervenciones son hoy en su mayoría mínimamente invasivas. En los adultos, los cálculos de cistina son menos sensibles a la litotricia extracorpórea por ondas de choque (LEOC); así como a algunas litotricias intracorpóreas endoscópicas, como es el caso de los niños. En casos con una gran carga de litos, se prefieren la nefrolitotricia percutánea (NLP) o, en casos seleccionados, la nefrolitotomía quirúrgica a cielo abierto. Esta reseña analiza los mecanismos patogenéticos subyacentes y brinda una norma para el diagnóstico, la terapia y la metafilaxis de la cistinuria sobre la base de las recomendaciones del Consorcio Internacional de Cistinuria (ICC) y la Asociación Europea de Urología (EAU).

Palabras clave
urolitiasis, evaluación metabólica, terapia médica


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Abstract
Cystinuria, an autosomal-recessive disorder of a renal tubular amino acid transporter, is the cause in up to 10% of all kidney stones observed in children. The stones are formed of cystine, which is relatively insoluble at physiological and acid urine pH. Several preventive methods are known, their effectiveness ranging from mediocre to bad. For medical metaphylaxis, long-term outcome is poor due to insufficient efficacy and low patients compliance. Up to 70% of patients will suffer from renal impairment as a result of recurrent stone formation and repeated interventions. However, regular follow-up examinations and optimal pharmacotherapy in highly compliant patients significantly enlarges stone-free intervals and minimizes the number of needed interventions, thus improving their social life. Medical metaphylaxis is mainly based on hyperhydration and urine alkalinization. If this is inefficient, sulfhydryl agents such as tiopronin can be added. Recurrent stone formation comes with the need of repeated urological interventions which bear the risk of consecutive impairment of renal function, although these interventions are today mostly minimally-invasive,. In grown ups, cystine stones have been shown to be less sensitive to extracorporeal shockwave lithotripsy (SWL) as well as to some intracorporeal lithotripsy probes as it is the case in children. In cases with large stone burden, percutaneous nephrolithotripsy (PNL) or, in selected cases, open surgical nephrolithotomy are preferred. This review discusses the underlying pathogenetic mechanisms and provides guidance for diagnosis, therapy and metaphylaxis of cystinuria following the recommendations of the International Cystinuria Consortium (ICC) and the European Association of Urology (EAU).

Key words
urolithiasis, metabolic evaluation, medical therapy


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Clasificación en siicsalud
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Especialidades
Principal: Pediatría
Relacionadas: Bioquímica, Diagnóstico por Laboratorio, Farmacología, Medicina Farmacéutica, Nefrología y Medio Interno, Urología



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Patrick Krombach, Klinikum Mannheim, D-68135, Theodor-Kutzer-Ufer 1-3, Mannheim, Alemania
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