[Polycystic renal disease in the adult associated with an incomplete form of Marfan's syndrome (author's transl)].
A case of polycystic renal disease of the adult associated to dissecting aneurysm of the ascending aorta with histological findings compatible with Marfan's syndrome is reported. A review of the literature discloses only one case of this association, although without cardiovascular abnormalities. Polycystic renal disease of the adult is associated with some frequency to aneurysms of the cerebral arteries and, occasionally, to aneurysms of systemic arteries (splenic and renal). On the other hand, the Marfan's syndrome presents the well known dysmorphic manifestations associated to cystic degeneration of certain organs (congenital pulmonary cystic disease and congenital renal cysts, amongst others), constituting the so-called secondary abnormalities. The association herein reported might be considered as casual, but could also represent simultaneous mutations due to a single mutagenic factor. This explanation is supported by the identical hereditary pattern and the fact that both diseases share some secondary abnormalities.
D000328:Adult; D000784:Aortic Dissection / Q000150:complications* / Q000000981:diagnostic imaging; D001014:Aortic Aneurysm / Q000150:complications* / Q000000981:diagnostic imaging; D001027:Aortography; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics
Enfermedad poliquística renal del adulto asociada con una forma incompleta de síndrome de Marfan.