I am happy to introduce this special supplement to Consultant for Pediatricians that highlights a new era of therapy for genetic disease. The cases here set the stage for a brief discussion of triage and testing, and for an update on management of genetic disorders—from prevention of complications to real therapy through tissue/enzyme replacement.
Your role as pediatrician is pivotal for early recognition and referral of patients with genetic disease and it is key to optimizing child development and later reproduction.1-3
Case B is a 6-year-old boy with absent speech, connective tissue laxity, and autistic behavior. His mother has learning disabilities and a maternal uncle is said to have mental retardation.
Do you recognize these disorders? (Diagnoses appear on the next page.)
1. Cooley WC. Redefining primary pediatric care for children with special health care needs: the primary care medical home. Curr Opin Pediatr. 2004;16:689-692.
2. McMillan JA. Distribution of specialized care to children: role of the pediatric generalist and subspecialist. J Pediatr. 2002;140:491-492.
3. Jaffee A. Women’s health begins in pediatrics. Arch Pediatr Adolesc Med. 1994;148:783.
4. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/entrez/. Accessed August 1, 2008.
5. Wilson GN. Neonate with hypotonia and subtle anomalies (Down syndrome). Consultant For Pediatricians. 2007;7:69-77.
6. Jones KL. Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: WB Saunders; 2006.
7. Weiner DL. Inborn errors of metabolism. www.emedicine.com/emerg/topic768.htm. Accessed July 28, 2008.
8. Saudubray JM, Carpentier C. Clinical phenotypes; diagnoses, algorithms [for inborn errors]. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:1327-1406. (This reference also contains excellent review chapters on genetics, molecular testing, gene and enzyme therapy.)
9. Wilson GN, Cooley WC. Preventive Health Care for Children With Genetic Conditions: Providing a Primary Care Medical Home. 2nd ed. Cambridge, UK: Cambridge University Press; 2006.
10. Pyeritz RE. A small molecule for a large disease. N Engl J Med. 2008;358:2829-2831.