Prader-Willi syndrom
Prader-Willi syndrom er en medfødt, arvelig forstyrrelse som skyldes skade på arveanlegget.
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Del pasientinformasjon
Den ligger åpent tilgjengelig på NHI.no sammen annen relevant informasjon
https://nhi.no/sykdommer/barn/arvelige-og-medfodte-tilstander/prader-willi-syndrom/Hva er Prader-Willi syndrom?
Årsak
Symptomer ved ubehandlet tilstand
Symptomer ved behandlet tilstand
Diagnostikk
Behandling
Prognose
Genetisk rådgiving
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Referanser
Dette dokumentet er basert på det profesjonelle dokumentet Prader-Willi syndrom. Referanselisten for dette dokumentet vises nedenfor.
- Butler MG, Miller JL, Forster JL. Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. Curr Pediatr Rev. 2019;15(4):207-244. PubMed
- Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. UpToDate, last updated Jan 31, 2022. UpToDate
- Frambu kompetansesenter for sjeldne diagnoser. Prader-Willis syndrom (PWS). Sist faglig oppdatert 2020. frambu.no
- Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet 2005; 67: 47-52. PubMed
- Prader A, Labhart A, and Willi H. (1956). Ein syndrom von adipositas, kleinwuchs, kryplorchimus und oligophrenic nach myalonieartigen zustand im neugeborenenalter. Schweiz Medical Wochenschr 1956; 86: 1260-1. PubMed
- Klingenber C, Førsvoll J, Myhre AG. Prader-Willi syndrom. Pediatriveileder i nyfødtmedisin. Sist revidert 2021. www.helsebiblioteket.no
- Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. pmid:10.1210/jc.2008-0649
- Salehi P, Leavitt A, Beck AE, et al. Obesity management in Prader-Willi syndrome. Pediatr Endocrinol Rev 2015; 12: 297-307. pmid:25962207 PubMed
- Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 83: 4183. pmid:18697869 PubMed
- Gross N, Rabinowitz R, Gross-Tsur V, Hirsch HJ, Eldar-Geva T. Prader-Willi syndrome can be diagnosed prenatally. Am J Med Genet A 2015; 167: 80. pmid: 25338954 PubMed
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- Frambu: Medisinsk beskrivelse Prader-Willi syndrom. Nettsiden besøkt 17.12.15
- Vendrame M, Maski KP, Chatterjee M, et al. Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. Epilepsy Behav 2010; 19: 306. pmid:20727826 PubMed
- Deal CL, Tony M, Høybye C, et al. Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome. J Clin Endocrinol Metab. 2013 Jun; 98(6): E1072–E1087 . www.ncbi.nlm.nih.gov
- Scheimann AO, Butler MG, Gourash L, et al. Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2008; 46: 80-3. doi:18162838
- Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol 2014; 6: 62-7. pmid:24932597 PubMed
- Cataletto, M., Angulo, M., Hertz, G. et al. Prader-Willi syndrome: A primer for clinicians. Int J Pediatr Endocrinol 2011, 12 (2011). doi.org