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01.02.2006 | Original Article

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

verfasst von: Lucie Hertz-Pannier, Michele Déchaux, Martine Sinico, Sophie Emond, Valerie Cormier-Daire, Jean-Marie Saudubray, Francis Brunelle, Patrick Niaudet, Nathalie Seta, Pascale de Lonlay

Erschienen in: Pediatric Radiology | Ausgabe 2/2006

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Abstract

Background

There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates.

Objective

To describe renal sonographic abnormalities in CDG type I in infants and children.

Material and methods

A retrospective study of renal US in 12 infants and children: 8 CDG-Ia (6 multivisceral forms, 2 neurological forms), 2 CDG-Ib, and 2 CDG-Ix, with detailed functional renal tests in 6. Histology of the kidneys of one 35-week fetus with CDG-Ia was available.

Results

Renal US was normal in the two children with the neurological form of CDG-Ia. All patients with the multivisceral form of CDG-Ia or with CDG-Ib showed increased cortical echogenicity, and/or abnormal pyramids (small +/− hyperechoic). The two patients with CDG-Ix showed predominant involvement of the medulla, with inverted corticomedullary differentiation in one. Kidney size was normal in all but two patients. The fetal kidneys exhibited diffuse microcysts arising from the distal tubules.

Conclusions

Hyperechoic kidneys are common in CDG-I patients, contrasting with grossly preserved renal function. The US pattern seems to differ slightly according to the type of CDG-I, and is consistent with microcystic changes of the renal parenchyma, which occur prenatally, and may be due to ciliary dysfunction secondary to altered glycosylation of tubular glycoproteins. CDG-I, which remains largely underdiagnosed at present, should be added to the causes of hyperechoic kidneys in children, especially in cases of multivisceral involvement, after ruling out other more frequent causes.

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Titel: Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes
verfasst von: Lucie Hertz-Pannier
Michele Déchaux
Martine Sinico
Sophie Emond
Valerie Cormier-Daire
Jean-Marie Saudubray
Francis Brunelle
Patrick Niaudet
Nathalie Seta
Pascale de Lonlay
Publikationsdatum: 01.02.2006
Verlag: Springer-Verlag
Erschienen in: Pediatric Radiology / Ausgabe 2/2006
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-005-0001-5

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Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

Abstract

Background

Objective

Material and methods

Results

Conclusions

Neu im Fachgebiet Radiologie

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

Wie toxische Männlichkeit der Gesundheit von Männern schadet

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Update Radiologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Background

Objective

Material and methods

Results

Conclusions

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