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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

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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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Acknowledgements

We thank Th. Dupré and S. Vuillaumier-Barrot for their work on mutation analysis and the French CDG Research Network, Institut des Maladies Rares (GS-IMG 0308).

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Authors and Affiliations

  1. Department of Paediatric Radiology, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris Cedex 15, France

    Lucie Hertz-Pannier, Sophie Emond & Francis Brunelle

  2. Department of Physiology, Hôpital Necker-Enfants Malades, Paris, France

    Michele Déchaux

  3. Department of Pathology, Centre Hospitalier Intercommunal, Creteil, France

    Martine Sinico

  4. Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France

    Valerie Cormier-Daire

  5. French CDG Research Network, Institut des Maladies Rares (GS-IMG 0308), Paris, France

    Valerie Cormier-Daire, Jean-Marie Saudubray, Nathalie Seta & Pascale de Lonlay

  6. Department of Paediatrics, Hôpital Necker-Enfants Malades, Paris, France

    Jean-Marie Saudubray, Patrick Niaudet & Pascale de Lonlay

  7. Department of Biochemistry, Hôpital Bichat-Claude Bernard, Paris, France

    Nathalie Seta

Authors
  1. Lucie Hertz-Pannier
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  2. Michele Déchaux
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  3. Martine Sinico
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  10. Pascale de Lonlay
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Correspondence to Lucie Hertz-Pannier.

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Hertz-Pannier, L., Déchaux, M., Sinico, M. et al. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes. Pediatr Radiol 36, 108–114 (2006). https://doi.org/10.1007/s00247-005-0001-5

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  • DOI: https://doi.org/10.1007/s00247-005-0001-5

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