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Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding

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Abstract

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal abnormalities) (OMIM #146265) is a rare autosomal dominant disorder caused by mutations in the GATA-3 gene (OMIM 13120), a transcription factor coding for a protein involved in vertebrate embryonic development. More than a hundred cases with variable renal features have been described so far. Here, we report on a patient suffering from HDR syndrome with glomerular nephropathy. Hypoparathyroidism appeared early in childhood but the subsequent features of HDR occurred later in the form of bilateral sensorineural deafness and renal insufficiency associated with nephrocalcinosis. HDR was not initially diagnosed due to the appearance of a transitory cardiac involvement and atypical renal symptoms (diffuse proliferative glomerulonephritis characterized by a self-limiting nephrotic syndrome). Conclusion: HDR syndrome with glomerular nephropathy has not yet been reported to our knowledge. Further studies of GATA-3 are needed to explore the involvement of this transcription factor in the development of HDR in humans, particularly in the kidneys.

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Authors have neither conflict of interest nor any financial relationship to disclose.

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Authors and Affiliations

  1. Pediatric Department, Nantes University Hospital, Nantes, France

    Alexis Chenouard, Emma Allain-Launay & Gwenaelle Roussey

  2. Genetic Department, Nantes University Hospital, Nantes, France

    Bertrand Isidor

  3. Histopathology Laboratory, Nantes University Hospital, Nantes, France

    Anne Moreau

  4. Pediatric Department, Hospital of Saint Nazaire, Saint-Nazaire, France

    Marc Le Bideau

  5. Clinique Médicale Pédiatrique, Hôpital Mère Enfant, 7 Quai Moncousu, 44093, Nantes cedex, France

    Gwenaelle Roussey

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  1. Alexis Chenouard
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  2. Bertrand Isidor
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  3. Emma Allain-Launay
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  4. Anne Moreau
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  5. Marc Le Bideau
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  6. Gwenaelle Roussey
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Correspondence to Gwenaelle Roussey.

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Chenouard, A., Isidor, B., Allain-Launay, E. et al. Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding. Eur J Pediatr 172, 107–110 (2013). https://doi.org/10.1007/s00431-012-1845-y

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  • DOI: https://doi.org/10.1007/s00431-012-1845-y

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