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Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia

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Abstract

McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic disease, associating immune deficiency with recurrent infantile or childhood infections, hematological abnormalities, and gastrointestinal dysfunction. The probability of malignancy is increased in these patients, as are disimmune manifestations. We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor. At the same time, there was an important escalation of diarrhea. Corticosteroids led to a progressive improvement of biological signs (hypocalcemia, hypoparathyroidism). By contrast, gastrointestinal symptoms and malabsorption did not improve. To our knowledge, this is the first report of autoimmune hypoparathyroidism in CHH.

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Acknowledgements

The authors would like to acknowledge Pr. Y. Bertrand, Dr. M. Charcosset, Pr. M. David, Dr. M. Fouillet-Desjonquères, Pr. A. Lachaux, Dr. C. Le Gall, Dr. N. Moreux and Dr. A. Sassolas for their implication in the care of the patient.

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Authors and Affiliations

  1. Service de Néphrologie et Rhumatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Bd Pinel, 69677, Bron Cedex, France

    Justine Bacchetta, Bruno Ranchin & Agnès Duquesne

  2. Université de Lyon, 69 008, Lyon, France

    Justine Bacchetta, Anne Sophie Brunet, Raymonde Bouvier, Patrick Edery, Nicole Fabien & Noël Peretti

  3. Service d’Hépato-Gastro-Entérologie et Nutrition Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France

    Anne Sophie Brunet & Noël Peretti

  4. Département d’Anatomie Pathologie du Pôle Est, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France

    Raymonde Bouvier

  5. Service de Cytogénétique Constitutionnelle, Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France

    Patrick Edery

  6. Département d’Immunologie, Unité d’Auto-Immunité; INSERM U851, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Oullins, France

    Nicole Fabien

  7. INSERM U870, Centre Hospitalier Lyon Sud, Oullins, France

    Noël Peretti

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  1. Justine Bacchetta
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  2. Bruno Ranchin
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  3. Anne Sophie Brunet
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  4. Raymonde Bouvier
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  5. Agnès Duquesne
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  6. Patrick Edery
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  7. Nicole Fabien
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  8. Noël Peretti
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Correspondence to Justine Bacchetta.

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Bacchetta, J., Ranchin, B., Brunet, A.S. et al. Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. Pediatr Nephrol 24, 2449–2453 (2009). https://doi.org/10.1007/s00467-009-1256-0

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  • DOI: https://doi.org/10.1007/s00467-009-1256-0

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