title: Congenital disorders of glycosylation: a rare cause of nephrotic syndrome.
abstract: Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following investigation, the specific defect in glycosylation remains to be identified; hence, a diagnosis of CDG Ix (type unknown) was made. At the age of 15-months the patient developed nephrotic syndrome and renal biopsy indicated a histopathological diagnosis of diffuse mesangial sclerosis on histopathology. Since cases of CDG Ix may often develop hypoalbuminaemia secondary to malabsorption or liver disease, this case highlights the need for additional regular monitoring for glomerular proteinuria, and indicates that a diagnosis of nephrotic syndrome should be considered in all types of CDG. Furthermore, we propose that early treatment with anti-proteinuric agents may be necessary to limit proteinuria and slow disease progression.
authors.affiliation: Department of Paediatric Nephrology, Evelina Children's Hospital, Guys & St Thomas NHS Foundation Trust, London SE1 7EH, UK. manish.sinha@gstt.nhs.uk
authors.forename: Manish D
authors.initials: MD
authors.lastname: Sinha
authors.forename: Catherine
authors.initials: C
authors.lastname: Horsfield
authors.forename: Debbie
authors.initials: D
authors.lastname: Komaromy
authors.forename: Caroline J
authors.initials: CJ
authors.lastname: Booth
authors.forename: Michael P
authors.initials: MP
authors.lastname: Champion
mesh_terms: D000015:Abnormalities, Multiple; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008297:Male; D009404:Nephrotic Syndrome / Q000209:etiology* / Q000473:pathology