Renal cysts in the carbohydrate-deficient glycoprotein syndrome.
The carbohydrate-deficient glycoprotein (CDG) syndrome is a newly described genetic disorder with autosomal recessive inheritance and multiple organ involvement. We describe five patients with the CDG syndrome who all had abnormal renal structure. In two patients autopsy disclosed multiple microcysts. A hyperechogenic pattern strongly suggesting microcysts was demonstrated in all patients that were available for ultrasound examination, while a large single cyst was also seen in one patient. Based on these findings and the reports of others, renal cysts appear to be common in the CDG syndrome.
Strøm
E H
EH
Department of Pathology, Ullevål Hospital, Oslo, Norway.
Strømme
P
P
Westvik
J
J
Pedersen
S J
SJ
D015415:Biomarkers; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging* / Q000473:pathology; D007679:Kidney Medulla / Q000473:pathology; D008297:Male; D013577:Syndrome; D014168:Transferrin / Q000031:analogs & derivatives / Q000378:metabolism; D014463:Ultrasonography
D015415:Biomarkers; D006023:Glycoproteins; D014168:Transferrin; C056759:carbohydrate-deficient transferrin