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June 2007 Interdisciplinar collaboration in cystinosis diagnosis and monitoring therapy
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Vol. 27. Issue. 3.June 2007
Pages 237-398
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Vol. 27. Issue. 3.June 2007
Pages 237-398
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Interdisciplinar collaboration in cystinosis diagnosis and monitoring therapy
Colaboración interdisplinar en el diagnóstico y tratamiento de cistinosis nefropática
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Esther Romero Ramírez, Ana Belén del Campo Alonso, Rafael Esteban de la Rosa, Fernando Perán
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We report our first cystinosis nephropatic case where interdisciplinary collaboration adquired a great relevance. We analyzed the deletions associated in the reponsable gen in the patient and her family (Table), and the levels of cystine (measured in mixed leucocytes). The patient with chronic renal disease stage 5 was treated with cystemine after renal transplantation diminishing the pathological level of cystine and the corneal deposits.
Keywords:
Cystine, cystinosis nephropatic, cysteamine
Describimos un caso de cistinosis nefropática intermedia en paciente con enfermedad crónica renal estadio 5 corregida por trasplante renal. Se analizaron los valores de cistina que resultaron patológicos y las delecciones más frecuentes del gen responsable. Tras el tratamiento con cisteamina se redujeron los niveles de cistina y los depósitos corneales.
Palabras clave:
Cistina, cistinosis nefropática, cisteamina

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