2004, Número 2
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Rev Mex Patol Clin Med Lab 2004; 51 (2)
Cistinosis. Presentación clínica en cuatro hermanos
Romo JE, Díaz-Rosales JD, Granados-Chávez J, Ortiz-Morales L, Barahona MP, Belmont-Martínez L
Idioma: Español
Referencias bibliográficas: 57
Paginas: 63-69
Archivo PDF: 117.76 Kb.
RESUMEN
La cistinosis es una enfermedad metabólica poco
frecuente que provoca acumulación de cistina en los tejidos orgánicos y
con ello la aparición de cristales de cistina en la córnea,
conjuntiva, médula ósea, ganglios linfáticos, leucocitos y vísceras
como el riñón, principalmente. Se presenta una serie de casos de
pacientes pediátricos hermanos, quienes acudieron a servicios médicos
por presentar mal estado general, fotofobia, disfagia,
malnutrición, deformidad en miembros inferiores, retraso del
crecimiento y déficit intelectual. El laboratorio reportó datos de
insuficiencia renal; sobresalen también datos de raquitismo en los
estudios de imagen. La biopsia renal evidenció células multinucleadas y
la microscopia electrónica confirmó la existencia de células
multinucleadas localizándose en células epiteliales del capilar
glomerular, así como depósitos intracelulares de cristales refringentes
en regiones del intersticio y de los glomérulos. El diagnóstico
realizado para estos pacientes fue: cistinosis nefropática de inicio
tardío. Concluimos que todos los pacientes que muestren datos como los
presentados se les debe estudiar de forma integral y sospechar de
cistinosis u otros trastornos metabólicos.
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