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1.
J Pediatr Endocrinol Metab ; 25(11-12): 1191-4, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23329770

RESUMEN

Chylomicron retention disease (CRD), or Anderson disease, is a rare, hereditary cause of fat malabsorption. It is one of the familial hypocholesterolaemia syndromes, along with homozygous hypobetalipoproteinaemia (HBL) and abetalipoproteinaemia (ABL). We report clinical, laboratory and histological data as well as molecular DNA analysis in the case of a 4-month-old boy with failure to thrive and steatorrhea who was diagnosed with CRD. His mother's first cousin, who was diagnosed as hypobetalipoproteinaemia 30 years ago, was also reviewed and his diagnosis was revised to CRD. Both patients were treated with a low fat diet and supplementation with fat-soluble vitamins resulting in significant improvement. In conclusion, CRD is a well-defined cause of fat malabsorption and can be distinguished from other forms of familial hypocholesterolaemia because of its specific lipid profile.


Asunto(s)
Quilomicrones/metabolismo , Insuficiencia de Crecimiento/diagnóstico , Trastornos del Crecimiento/diagnóstico , Trastornos del Metabolismo de los Lípidos/diagnóstico , Síndromes de Malabsorción/diagnóstico , Dieta con Restricción de Grasas , Suplementos Dietéticos , Duodeno/patología , Duodeno/ultraestructura , Endoscopía Gastrointestinal , Insuficiencia de Crecimiento/genética , Insuficiencia de Crecimiento/metabolismo , Salud de la Familia , Trastornos del Crecimiento/genética , Trastornos del Crecimiento/metabolismo , Humanos , Lactante , Trastornos del Metabolismo de los Lípidos/genética , Trastornos del Metabolismo de los Lípidos/metabolismo , Síndromes de Malabsorción/genética , Síndromes de Malabsorción/metabolismo , Masculino , Esteatorrea/diagnóstico , Esteatorrea/genética , Esteatorrea/metabolismo , Vitaminas/administración & dosificación
2.
Orphanet J Rare Dis ; 6: 78, 2011 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-22104167

RESUMEN

BACKGROUND: Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied to date exhibit a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport. We describe here a patient with AD/CMRD, a normal SAR1B gene protein coding sequence and maternal uniparental disomy of chromosome 7 (matUPD7). METHODS AND RESULTS: The patient, one of two siblings of a Japanese family, had diarrhea and steatorrhea beginning at five months of age. There was a white duodenal mucosa upon endoscopy. Light and electron microscopy showed that the intestinal villi were normal but that they had lipid laden enterocytes containing accumulations of lipid droplets in the cytoplasm and lipoprotein-size particles in membrane bound structures. Although there were decreased amounts in plasma of total- and low-density lipoprotein cholesterol, apolipoproteins AI and B and vitamin E levels, the triglycerides were normal, typical of AD/CMRD. The presence of low density lipoproteins and apolipoprotein B in the plasma, although in decreased amounts, ruled out abetalipoproteinemia. The parents were asymptomatic with normal plasma cholesterol levels suggesting a recessive disorder and ruling out familial hypobetalipoproteinemia. Sequencing of genomic DNA showed that the 8 exons of the SAR1B gene were normal. Whole genome SNP analysis and karyotyping revealed matUPD7 with a normal karyotype. In contrast to other cases of AD/CMRD which have shown catch-up growth following vitamin supplementation and a fat restricted diet, our patient exhibits continued growth delay and other aspects of the matUPD7 and Silver-Russell Syndrome phenotypes. CONCLUSIONS: This patient with AD/CMRD has a normal SAR1B gene protein coding sequence which suggests that factors other than the SAR1B protein may be crucial for chylomicron secretion. Further, this patient exhibits matUPD7 with regions of homozygosity which might be useful for elucidating the molecular basis of the defect(s) in this individual. The results provide novel insights into the relation between phenotype and genotype in these diseases and for the mechanisms of secretion in the intestine.


Asunto(s)
Hipobetalipoproteinemias/patología , Síndromes de Malabsorción/patología , Proteínas de Unión al GTP Monoméricas/genética , Trisomía/patología , Disomía Uniparental/patología , Pueblo Asiatico/genética , Biopsia , Preescolar , Cromosomas Humanos Par 7/genética , Cromosomas Humanos Par 7/metabolismo , Endoscopía , Humanos , Hipobetalipoproteinemias/genética , Hipobetalipoproteinemias/metabolismo , Mucosa Intestinal/metabolismo , Síndromes de Malabsorción/genética , Síndromes de Malabsorción/metabolismo , Masculino , Proteínas de Unión al GTP Monoméricas/química , Proteínas de Unión al GTP Monoméricas/metabolismo , Mosaicismo , Fenotipo , Análisis de Secuencia de ADN , Síndrome de Silver-Russell/genética , Síndrome de Silver-Russell/metabolismo , Síndrome de Silver-Russell/patología , Esteatorrea/genética , Esteatorrea/metabolismo , Esteatorrea/patología , Trisomía/genética , Disomía Uniparental/genética
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