Autoimmune liver disease in Noonan Syndrome

Italia Loddo, Claudio Romano, Maria Concetta Cutrupi, Marco Sciveres, Silvia Riva, Annamaria Salpietro, Valeria Ferraù, Romina Gallizzi, Silvana Briuglia

Research output: Contribution to journalArticlepeer-review

Abstract

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein.Autoimmune Hepatitis (AIH) is a cryptogenic, chronic and progressive necroinflammatory liver disease. Common features of AIH are hypergammaglobulinemia (IgG), presence of circulating autoantibodies, histological picture of interface hepatitis and response to immunosuppressant drugs. Conventional treatment with Prednisone and Azathioprine is effective in most patients.We describe the case of a 6 years-old girl with Noonan Syndrome and Autoimmune Hepatitis type 1. Molecular analysis of PTPN11 gene showed heterozygous mutation c.923A>G (Asn308Ser) in exon 8. Though association between NS and autoimmune disorders is known, this is the second case of association between Noonan Syndrome and Autoimmune Hepatitis type 1 described in literature. In the management of NS, an accurate clinical evaluation would be recommended. When there is a clinical suspicion of autoimmune phenomena, appropriate laboratory tests should be performed with the aim of clarifying whether the immune system is involved in NS. We think that autoimmunity represents a characteristic of NS, even if the etiopathogenesis is still unknown.

Original languageEnglish
Pages (from-to)188-190
Number of pages3
JournalEuropean Journal of Medical Genetics
Volume58
Issue number3
DOIs
Publication statusPublished - Mar 1 2015

Keywords

  • Autoimmune hepatitis
  • Noonan syndrome
  • PTPN11
  • RASopathies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)

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