Noonan syndrome management and follow-up: Difference between revisions
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* Cryptorchidism can be found in up to 80% of boys with Noonan syndrome and close attention to descended testes is recommended. Surgical orchiopexy is usually required by the age of 1 year.<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref><ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref> | * Cryptorchidism can be found in up to 80% of boys with Noonan syndrome and close attention to descended testes is recommended. Surgical orchiopexy is usually required by the age of 1 year.<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref><ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref> | ||
===Hematology and | ===Hematology=== | ||
* Bleeding disorders can be seen in up to 65% of patients with Noonan syndrome.<ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> An initial work-up consisting of a complete blood cell count with differential, prothrombin time and activated partial thromboplastin time is recommended.<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | |||
* A repeat evaluation is required if the patient was aged 6-12 months during first screening.<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | |||
* If the patient requires any surgical procedure, a pre-operative screen with added factor IX, XI, and XII concentration assays, von Willebrand factor, and platelet aggregation testing is recommended in conjunction with a hematology consult.<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | |||
===Neurologic and Behavioral=== | ===Neurologic and Behavioral=== | ||
Revision as of 00:26, 15 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Management and Follow-up
A mutlidisciplinary team is often needed in the management of Noonan syndrome. A system-based approach is usually adopted and recommendations are based on the severity of disease manifestations.
Cardiovascular
- Patients with Noonan syndrome require lifetime cardiac follow-up. After initial evaluation including a focused cardiac physical exam, echocardiography, and electrocardiography, follow up is based on work-up findings. If initial work-up is unremarkable, a follow up is recommended every 5 years. [1][2]
- The most common cardiac finding is pulmonary valve stenosis. If mild, only periodic follow-up is recommended. If clinically significant, pulmonary balloon valvuloplasty is recommended in the absence of significant valve dysplasia. With significantly dysplastic valves a pulmonary valvectomy or pulmonary valve homograft during childhood is the first line management. [3]
- The second most common cardiac manifestation of Noonan syndrome is hypertrophic cardiomyopathy. Management is usually similar to most patients with HCM and includes beta-blockers and surgical myomectomy in certain cases with significant outflow obstruction. [3]
Endocrine and Developmental
- Up to 70% of patients with Noonan syndrome have some form of growth delay with mean delay in bone age of 2 years. Although growth hormone supplementation has only been studied in small studies, data suggests improved growth without significant side effects.
- Most studies with long-term follow up suggest that better outcomes are associated with earlier initiation of GH and a longer duration of treatment.[3]
- The largest study involving 65 patients with a mean age at initiation of 11.6 years showed a mean growth of 10.9 cm in boys vs. 9.2 cm in girls with a mean treatment duration of 5.6 years at a dose of 0.33 mg/kg/week.[4] In general, doses used in most studies ranged from 0.24-0.35 mg/kg/week.[3]
- Special growth curves for Noonan syndrome have been developed and should be used in plotting growth.[5]
- Plotting growth on curves specific for Noonan syndrome is recommended to be done 3 times yearly from birth till age 3 years than yearly after that.[1]
Renal and Genitourinary
- 10% of patients with Noonan syndrome have associated renal abnormalities. Renal ultrasound is recommended at diagnosis.[3]
- Cryptorchidism can be found in up to 80% of boys with Noonan syndrome and close attention to descended testes is recommended. Surgical orchiopexy is usually required by the age of 1 year.[1][2]
Hematology
- Bleeding disorders can be seen in up to 65% of patients with Noonan syndrome.[3] An initial work-up consisting of a complete blood cell count with differential, prothrombin time and activated partial thromboplastin time is recommended.[1]
- A repeat evaluation is required if the patient was aged 6-12 months during first screening.[1]
- If the patient requires any surgical procedure, a pre-operative screen with added factor IX, XI, and XII concentration assays, von Willebrand factor, and platelet aggregation testing is recommended in conjunction with a hematology consult.[1]
Neurologic and Behavioral
Gastrointestinal
Lymphatic
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
- ↑ 2.0 2.1 van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME; et al. (2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–59. doi:10.1542/peds.2009-3207. PMID 20876176.
- ↑ Romano AA, Dana K, Bakker B, Davis DA, Hunold JJ, Jacobs J; et al. (2009). "Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone". J Clin Endocrinol Metab. 94 (7): 2338–44. doi:10.1210/jc.2008-2094. PMID 19401366 Check
|pmid=value (help). - ↑ Witt DR, Keena BA, Hall JG, Allanson JE (1986). "Growth curves for height in Noonan syndrome". Clin Genet. 30 (3): 150–3. PMID 3780030.
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