Problemi non correnti
Sintomi comuni per malattie rare
Un approccio generale del pediatra ai pazienti con malattie rare
COMMON SYMPTOMS FOR RARE DISEASES
G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi
Aprile 2007 - pagg. 230 -236
Abstract
As a rule many patients with rare diseases report their symptoms at first to a paediatrician or
to a general practitioner. These are considered “specialists” in the cure of common problems,
but also “common” patients and “common” symptoms can hide rare diseases, and therefore
the primary care services have the responsibility to recognize and to manage these patients
as well. A delayed diagnosis can sometimes compromise seriously the prognosis of the disease,
while a timely diagnosis could influence positively the life of the patient. Therefore, even
in presence of common symptoms, a paediatrician should be alerted to identify possible
“red flags” in order to suspect and consider a rare disease in the differential diagnosis.
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Eurordis. What is a rare disease? European
Organisation for Rare Diseases. http://www.
eurordis.org/article.php3?id_article=252.
2. Eurordis. EurordisCare2: survey of diagnostic delays, 8 diseases, Europe, European Organisation for Rare Diseases. http://www.eurordis. org/article.php3?id_article=454.
3. Phillips WR, Zebras on the commons: rare conditions in family practice. J Am Board Fam Pract 2004;17(4):283-6.
4. Taruscio D, et al. Attivitŕ del Centro Nazionale Malattie Rare dell’Istituto Superiore di Sanitŕ. Notiziario dell’Istituto Superiore di Sanitŕ 2006;19(10):3-10.
5. Nelson WE, Behrman RE, Kliegman RM. Nelson Textbook of Pediatrics 17th edition. WB Saunders Co. Philadelphia, 2004.
6. Ventura A, Gagliardo A, Berti I, Marchetti F. Che cosa deve sapere il pediatra delle malattie rare. Medico e Bambino 2003;22(5):292-307.
7. Odievre M. Clinical presentation of metabolic liver disease. J Inherit Metab Dis 1991; 14(4):526-30.
8. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006;160(6):603-8.
9. Mnif K, Chabchoub A, Marrakchi Z, Ayachi R, Khrouf N. Wolman disease. Arch Pediatr 1994;1(7):663-6.
10. Odievre M. Clinical presentation of metabolic liver disease, J Inherit Metab Dis 1991, 14(4):526-30.
11. Nebbia G, Hadchouel M, Odievre M, Alagille D. Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. J Pediatr 1983;102(5): 661-5.
12. Yuce A, Kocak N, Gurakan F, Ozen H. Wilson's disease with hepatic presentation in childhood. Indian Pediatr 2000;37(1):31-6.
13. Imrie J, Wraith JE. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. Arch Dis Child 2001;84(5):427-9.
14. Kansu E, Uner A, McArthur JR. A 5-yearold boy with hepatosplenomegaly. Hematology 2004;9(1):79-80.
15. Wong A, Ortiz-Neira CL, Reslan WA, et al. Liver involvement in Langerhans cell histiocytosis. Pediatr Radiol 2006;36(10):1105- 07.
16. Rauch F, Glorieux FH. Treatment of children with osteogenesis imperfecta. Curr Osteoporos Rep 2006;4(4):159-64.
17. Elstein D, Itzchaki M, Mankin HJ. Skeletal involvement in Gaucher's disease. Baillieres Clin Haematol 1997;10(4):793-816.
18. Wuhl E, Haffner D, Offner G, Broyer M, van’t Hoff W, Mehls O and European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis. Longterm treatment with growth hormone in short children with nephropathic Cystinosis. J Pediatr 2001;138(6):880-7.
19. Noto RA, Vijayaraghavan V, Timoshin A, Sansobrino D. Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. Acta Paediatr 2003;92(8):977- 9.
20. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann- Pick disease. J Pediatr 2003;142(4):424- 8.
21. Panis B, Gerver WJ, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr 2006;S22.
22. Guerci VI, Pittis MG, Ciana G, Nevjyel M, Addobbati R, Bembi B. La malattia di Anderson- Fabry in etŕ pediatrica. Medico e Bambino 2003;22(5):309-13.
23. Bailey DB Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics 2003; 111 (2):407-16.
24. Walterfang M, Fietz M, Fahey M, et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 2006;18(2):158-70.
25. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148(5):671-76.
26. Davanzo R, Barth E, Demarini S. L’ipoglicemia neonatale. Medico e Bambino 2004;23 (11):699-704.
27. Taroni F, Uziel G. Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children. Curr Opin Neurol 1996;9(6):477-85.
28. Kolodny EH. Mucolipidosis: clinical and genetic aspects. Rev Neurol 1998;27(156):337- 41.
29. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352(4):362-72.
30. Giglio L, Petaros P, Neri E, et al. Sindrome di Shwachman -Diamond: uno studio collaborativo. Medico e Bambino 2002;21(2):85-89.
31. Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45(7):892-901.
32. Costello R, O’Callaghan T, Sebahoun G. Gaucher disease and multiple myeloma. Leuk Lymphoma 2006;47(7):1365-8.
33. Al-Trabolsi HA, Alshehri M, Al-Shomrani A, Shabanah M, Al-Barki AA. “Primary” pulmonary Langerhans cell histiocytosis in a twoyear- old child: case report and literature review. J Pediatr Hematol Oncol 2006;28(2):79- 81.
34. Alymlahi E, Dafiri R. Pulmonary involvement in Niemann-Pick type B disease. J Postgrad Med 2004; 50(4):289-90.
35. Vicente MP, Pons M, Medina M. Pulmonary involvement in tuberous sclerosis. Pediatr Pulmonol 2004;37(2):178-80.
36. Pennesi M, Marchetti F, Crovella S, et al. A new mutation in two siblings with cystinosis presenting with Bartter syndrome. Pediatr Nephrol 2005; 20(2):217-9.
37. Kleta R, Bernardini I, Ueda M, et al. Longterm follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004; 145(4):555- 60.
38. Boelens JJ. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 2006;29(2-3):413-20.
39. Cox-Brinkman J, Boelens JJ, Wraith JE, et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 2006; 38(1):17-21.
40. Istituto Superiore di Sanitŕ. Malattie rare, lo stato dell’arte in un convegno internazionale all’ISS, http://www.iss.it/pres/focu/cont. php?id=585〈=1&tipo=3.
41. Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006; 185(2):82-3.
2. Eurordis. EurordisCare2: survey of diagnostic delays, 8 diseases, Europe, European Organisation for Rare Diseases. http://www.eurordis. org/article.php3?id_article=454.
3. Phillips WR, Zebras on the commons: rare conditions in family practice. J Am Board Fam Pract 2004;17(4):283-6.
4. Taruscio D, et al. Attivitŕ del Centro Nazionale Malattie Rare dell’Istituto Superiore di Sanitŕ. Notiziario dell’Istituto Superiore di Sanitŕ 2006;19(10):3-10.
5. Nelson WE, Behrman RE, Kliegman RM. Nelson Textbook of Pediatrics 17th edition. WB Saunders Co. Philadelphia, 2004.
6. Ventura A, Gagliardo A, Berti I, Marchetti F. Che cosa deve sapere il pediatra delle malattie rare. Medico e Bambino 2003;22(5):292-307.
7. Odievre M. Clinical presentation of metabolic liver disease. J Inherit Metab Dis 1991; 14(4):526-30.
8. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006;160(6):603-8.
9. Mnif K, Chabchoub A, Marrakchi Z, Ayachi R, Khrouf N. Wolman disease. Arch Pediatr 1994;1(7):663-6.
10. Odievre M. Clinical presentation of metabolic liver disease, J Inherit Metab Dis 1991, 14(4):526-30.
11. Nebbia G, Hadchouel M, Odievre M, Alagille D. Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. J Pediatr 1983;102(5): 661-5.
12. Yuce A, Kocak N, Gurakan F, Ozen H. Wilson's disease with hepatic presentation in childhood. Indian Pediatr 2000;37(1):31-6.
13. Imrie J, Wraith JE. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. Arch Dis Child 2001;84(5):427-9.
14. Kansu E, Uner A, McArthur JR. A 5-yearold boy with hepatosplenomegaly. Hematology 2004;9(1):79-80.
15. Wong A, Ortiz-Neira CL, Reslan WA, et al. Liver involvement in Langerhans cell histiocytosis. Pediatr Radiol 2006;36(10):1105- 07.
16. Rauch F, Glorieux FH. Treatment of children with osteogenesis imperfecta. Curr Osteoporos Rep 2006;4(4):159-64.
17. Elstein D, Itzchaki M, Mankin HJ. Skeletal involvement in Gaucher's disease. Baillieres Clin Haematol 1997;10(4):793-816.
18. Wuhl E, Haffner D, Offner G, Broyer M, van’t Hoff W, Mehls O and European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis. Longterm treatment with growth hormone in short children with nephropathic Cystinosis. J Pediatr 2001;138(6):880-7.
19. Noto RA, Vijayaraghavan V, Timoshin A, Sansobrino D. Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. Acta Paediatr 2003;92(8):977- 9.
20. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann- Pick disease. J Pediatr 2003;142(4):424- 8.
21. Panis B, Gerver WJ, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr 2006;S22.
22. Guerci VI, Pittis MG, Ciana G, Nevjyel M, Addobbati R, Bembi B. La malattia di Anderson- Fabry in etŕ pediatrica. Medico e Bambino 2003;22(5):309-13.
23. Bailey DB Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics 2003; 111 (2):407-16.
24. Walterfang M, Fietz M, Fahey M, et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 2006;18(2):158-70.
25. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148(5):671-76.
26. Davanzo R, Barth E, Demarini S. L’ipoglicemia neonatale. Medico e Bambino 2004;23 (11):699-704.
27. Taroni F, Uziel G. Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children. Curr Opin Neurol 1996;9(6):477-85.
28. Kolodny EH. Mucolipidosis: clinical and genetic aspects. Rev Neurol 1998;27(156):337- 41.
29. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352(4):362-72.
30. Giglio L, Petaros P, Neri E, et al. Sindrome di Shwachman -Diamond: uno studio collaborativo. Medico e Bambino 2002;21(2):85-89.
31. Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45(7):892-901.
32. Costello R, O’Callaghan T, Sebahoun G. Gaucher disease and multiple myeloma. Leuk Lymphoma 2006;47(7):1365-8.
33. Al-Trabolsi HA, Alshehri M, Al-Shomrani A, Shabanah M, Al-Barki AA. “Primary” pulmonary Langerhans cell histiocytosis in a twoyear- old child: case report and literature review. J Pediatr Hematol Oncol 2006;28(2):79- 81.
34. Alymlahi E, Dafiri R. Pulmonary involvement in Niemann-Pick type B disease. J Postgrad Med 2004; 50(4):289-90.
35. Vicente MP, Pons M, Medina M. Pulmonary involvement in tuberous sclerosis. Pediatr Pulmonol 2004;37(2):178-80.
36. Pennesi M, Marchetti F, Crovella S, et al. A new mutation in two siblings with cystinosis presenting with Bartter syndrome. Pediatr Nephrol 2005; 20(2):217-9.
37. Kleta R, Bernardini I, Ueda M, et al. Longterm follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004; 145(4):555- 60.
38. Boelens JJ. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 2006;29(2-3):413-20.
39. Cox-Brinkman J, Boelens JJ, Wraith JE, et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 2006; 38(1):17-21.
40. Istituto Superiore di Sanitŕ. Malattie rare, lo stato dell’arte in un convegno internazionale all’ISS, http://www.iss.it/pres/focu/cont. php?id=585〈=1&tipo=3.
41. Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006; 185(2):82-3.
Corrispondenza: jackpatch80@hotmail.com