Che cosa deve sapere il pediatra delle malattie rare

Rare diseases constitute a highly eterogeneous category of (mainly genetic) disorders. Even if the individual diseases are rare, due to their global incidence, rare diseases represent both an important cause of morbidity and mortality and a challenge for the health care system. Based on a series of exemplary cases, the Authors define the possible role of general paediatricians in the diagnosis, treatment and care of children with rare diseases, focusing on six points: 1. the need to be up-to-date on the diagnostic tools (for instance on the use of FISH in the diagnosis of mental retardation); 2. the need to be up-to-date on the therapeutic options: with drugs (as in the exemple of the biphosphonates in osteogenesis imperfecta or in that of the nitrotrifluoromethylbenzoil-NTBC-in thyrasinemia), with hormones (as in the exemple of growth hormone in Turner syndrome), with surgery (as in the case of severe genetic craniostenosis), with enzymatic replacement (as in the case of Gaucher disease type I or Fabry disease), with bone marrow transplantation (as in the case of malignant osteopetrosis or in that of selected cases of MPS 1H); 3. the need to make a correct diagnosis, thus avoiding potentially serious consequences (as in the case of fructose intolerance); 4. the need for timely start of effective therapy (as in the case of some inborn errors of metabolism like biotinidase defect with lactic acidosis or in that of the congenital immunologic defect presenting as autoimmune disorders without infections-IPEX, Wiskott-Aldrich disease-, or in familiar periodic fevers); 5. the need to give the right preventive advice (as in the case of maternal phenylketonuria for avoiding mental retardation and microcephalia in the newborn); 6. the need to assist the family and the child in any situation, even when "there is nothing to do".