Maggio 2003 - Volume XXII - numero 5
Focus
Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma
Key words: Rare diseases, Epidemiology, Quality of care
The National Centre for Rare Diseases was established in the year 2000 at the Istituto Superiore di Sanità, Italy. The primary objective of the Centre is to improve the quality of life of children affected by rare diseases, through the coordination of the activities of all the institutions involved in care and research on rare diseases at national level. To achieve this objective, the Centre promotes laboratory, epidemiological and health services research and supports the creation of National Registries, the development of quality standards for laboratory investigations and international research networking. The philosophy of the Centre attributes great importance to identifying the needs of the patients and their families and as a consequence to the collaboration with lay associations.
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Focus
Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
Key words: Rare diseases, Inborn errors of metabolism, Gaucher disease, Biotinidase defect, Phenylketonuria, Osteogenesis imperfecta, Biphosphonates, Thyrosinemia, MPS 1H, Fructose intolerance, IPEX, Wiskott-Aldrich disease, Turner syndrome, FISH, Subthelomeric micr
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 thyrosinemia), 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”.
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Focus
UO Dipartimentale di Malattie Metaboliche, IRCCS “Burlo Garofolo”, Trieste
Key words: Anderson-Fabry’s disease, Enzyme replacement therapy, Angiokeratoma corporis diffusum, Cornea verticillata
Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them confined to individual pedigrees. Two different phenotypes have been recognised. The most frequent or “classical” form involves mainly the vascular endothelium and different tissues, particularly kidney, heart and central nervous system, whilst the second or “atypical” form is primarily limited to the myocardium. Classic symptoms, such as neuropathic pain, febrile episodes, angiokeratoma and ocular abnormalities usually start in the first or second decade of life. The progressive renal, cardiac and cerebrovascular involvement leads to early death. The disease predominantly affects males, but many female carriers also present variable clinical manifestations due to random X inactivation. Diagnosis is usually made in adulthood and hitherto treatment has been mainly symptomatic. Recently, recombinant enzyme replacement therapy has become available. Paediatricians’ knowledge of the principal clinical symptomatology of this rare disorder is necessary to make an early diagnosis and to start treatment as soon as possible, thus avoiding irreversible organ damage. The complexity of this disease needs a multidisciplinary approach and close monitoring of the clinical efficacy of the treatment.
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