[The kidney in Refsum's disease. Clinical, histologic and ultrastructural study of a case].
A renal biopsy was performed in a 41 year old man with Refsum's disease, following the onset of renal failure. 30% of the glomeruli were sclerosed, the others appeared normal. Ultrastructural examination revealed several types of inclusions within the tubular epithelial cells: dense bodies, simple or complex lipidic vacuoles and particularly structures composed of quadrangular microtubules with sides measuring 400 angstrom, rarely encountered in renal pathology. These dense elements, devoid of membrane and often in close contact with lipidic vacuoles, are found within the epithelial cells of the distal convoluted tubules and Henle's loops. They were localized extramitochondrially and no specimen was suggestive of a degraded form of the mitochondria. Some analogy can be made with the renal inclusions observed in Gaucher's disease.
D'Agrosa
M C
MC
Service de Néphrologie, Hôpital Saint-Jacques, Clermont-Ferrand.
Deteix
P
P
Fonck
Y
Y
Clavelou
P
P
Cluzel
P
P
Betail
G
G
Tournilhac
M
M
Baguet
J C
JC
D000328:Adult; D005455:Fluorescent Antibody Technique; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure*; D008297:Male; D008870:Microtubules / Q000473:pathology / Q000648:ultrastructure; D009393:Nephritis / Q000209:etiology / Q000473:pathology*; D012035:Refsum Disease / Q000473:pathology*; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure
Le rein dans la maladie de Refsum. Etude clinique, histologique et ultrastructurale d'une observation.