RESUMEN
A 9-month-old girl presented with massive bilateral diffuse nephroblastomatosis. After response to actinomycin D and vincristine over a period of 1 year, the nephroblastomatosis continuously progressed under this treatment. As retinoic acid signaling is critical for normal renal development and nephroblastomatosis seems histologically as undifferentiated embryonal tissue, we added 13-cis retinoic acid to the chemotherapy regimen. Three months thereafter, kidney volumes declined significantly over a period of 1 year. Interestingly, nephroblastomatosis-associated acquired von Willebrand disease also resolved. Retinoic acid maybe a novel nontoxic treatment option for nephroblastomatosis requiring further systematic evaluation.
Asunto(s)
Resistencia a Antineoplásicos , Isotretinoína/administración & dosificación , Neoplasias Renales/tratamiento farmacológico , Lesiones Precancerosas/tratamiento farmacológico , Antibióticos Antineoplásicos/administración & dosificación , Antineoplásicos Fitogénicos/administración & dosificación , Dactinomicina/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Femenino , Humanos , Lactante , Riñón/patología , Neoplasias Renales/patología , Imagen por Resonancia Magnética , Lesiones Precancerosas/patología , Vincristina/administración & dosificaciónAsunto(s)
Fallo Renal Crónico/epidemiología , Tamizaje Masivo , Urinálisis/métodos , Niño , Femenino , Humanos , Incidencia , Masculino , Prevalencia , Qatar/epidemiologíaRESUMEN
Cystic fibrosis (CF) and apparent mineralocorticoid excess (AME) syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR) gene which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the apical surface of epithelial cells. AME is due to the deficiency of 11ß-hydroxysteroid dehydrogenase type 2 enzyme (11ßHSD2), which is responsible for the peripheral inactivation of cortisol to cortisone. Cortisol excess stimulates the mineralocoritoid receptors (MR) resulting in intense sodium retention, hypokalemia and hypertension. We report on a consanguineous Arab family, in which two sibs inherited both CF and AME. Gene testing for AME revealed previously unreported mutation in the 11ßHSD2 gene. This report draws attention to the importance of recognizing the possibility of two recessive disorders in the same child in complex consanguineous families. Moreover, it provides a unique opportunity to highlight the implications of the coexistence of two genetic disorders on patient care and genetic counseling of the family.