• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.34-38
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• 2021

Prader-Willi syndrome is a complicated genetic disorder caused by a mutation on chromosome 15q11-13. The disease results in morbid obesity due to hyperphagia, growth disturbance, multiple endocrine problems from hypopituitarism, developmental delay, and cognitive or behavioral problems. Recombinant human growth hormone has been used to improve body composition and muscle mass, which plays a main role in treating patients with Prader-Willi syndrome. We describe previous studies showing the efficacy and safety of growth hormone treatment in children with Prader-Willi syndrome and provide treatment guidelines. Growth hormone therapy could be beneficial for children with Prader-Willi syndrome and improve their quality of life.

• Childhood Kidney Diseases
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• 제8권2호
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• pp.244-249
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• 2004

비만성 사구체경화증(obesity-associated focal segmental glomerulosclerosis)은 비만과 부종이 없는 신증후군 범위의 단백뇨, 사구체 비대 및 경화 등의 임상상을 보이는 질환으로, 다수의 환자에서 신부전으로 진행되는 것으로 알려져 있다. 연구자들은 부종 없이 심한 단백뇨와 저알부민혈증을 보인 14세의 Prader-Willi 증후군 여아에서 신생검을 통하여 사구체비후와 메산지움 증식이 동반된 국소성 분절성 사구체경화 소견을 관찰하였다 이로써 소아의 Prader-Willi 증후군에서도 비만성 사구체경화증에 의한 신부전으로의 진행 위험이 있음을 알리는 바이다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제8권1호
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• pp.133-138
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• 1997

Prader-Willi 증후군(Prader-Willi Syndrome, PWS)은 $50{\sim}-70%$ 정도의 환자에서 염색체 15번에 이상이 있음이 보고된 유전적인 질환으로서, 그 특징적인 임상양상은 심한 근긴장의 저하(hypotonia), 반사소실(areflexia), 섭식의 곤란(feeding difficulty), 저체온증(hypothermia), 성기왜소증(microgenitalia), 음낭저형성증(hypoplastic scrotum), 대식증(polyphagia), 포만감의 감소와 비만, 정신운동발달의 지연, 저성선기능증(hypogonadism) 및 안면과 척추의 기형 등이다. 또한 행동상의 여러 문제들이 동반되는데 분노발작, 피부를 심하게 뜯거나 발모광, 과도한 식욕과 관련된 음식 도벽증이 나타나므로 정신과적 치료가 필요하다. 본 증례는 14세된 PWS환자로서 비만과 대식증, 도벽증, 학업부진 및 생활부적응 문제 등으로 2주간의 입원과 약 1년간의 추적기간 동안 약물요법(fluoxetine 투여)과 행동요법, 그리고 가족요법을 받아 왔다. 장기간의 Fluoxetine투여를 통하여 비만과 식욕의 조절에는 효과가 만족스럽지 않았으나 우울감과 감정문제, 자살사고 및 행동문제들은 호전되었다.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.35-40
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.

• Archives of Plastic Surgery
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• 제34권5호
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• pp.656-658
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• 2007

Purpose: Prader-Willi Syndrome(PWS) is a congenital chromosomal disorder characterized by compulsive and early development of obesity. Obesity is identified as the main cause of morbidity in PWS individuals. Also, body change for rapid weight gain, such as gynecomastia, can cause considerable functional and psychological trauma, We corrected successfully gynecomastia in PWS patient, so we reported our experience of surgical method and literature reviews. Methods: A 16-year-old male patient presented with gynecomastia. He was diagnosed as with PWS at pediatric department. We performed reduction mammaplasty using inferior pedicle and Wise pattern. Excision amount was 1350g in right breast and 1415g in left breast. Also, we managed upper and lateral fullness of breast with liposuction. Results: There were no specific complications, such as hematoma, infection, nipple-areola complex necrosis, and so on. Also, aesthetic and functional outcome was acceptable Conclusion: We experienced successful correction of gynecomastia in PWS patient, and found advantages of conventional reduction mammaplasty using inferior pedicle and Wise pattern at this specific situation.

• Childhood Kidney Diseases
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• 제9권1호
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• pp.112-116
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• 2005

저자들은 PWS로 확진된 영아에서 양측성의 심한 Hutch 방광게실과 방광요관 역류가 동반됨을 처음으로 발견하였다. PWS의 근긴장도 저하와 Hutch 게실의 관련성을 생각할 수 있으며 향후 보다 많은 증례 연구를 통해 선천성 방광 게실과 관련한 증후군에 PWS를 포함시킬 것을 고려 해 야 하겠다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.49-53
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• 2015

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. Many features of PWS indicate a deficiency in growth hormone (GH) production, and these findings provide a rationale for GH therapy in PWS. It is possible that rhGH therapy could have beneficial effects in adults with PWS, similar to those in adults with GH deficiency (GHD) of non-syndromic cause. However, there is a paucity of data on the use of GH in adults with PWS. Here, the previous studies about efficacy and safety of rhGH therapy in PWS adults are summarized. Briefly, rhGH therapy in PWS adults may improve body composition, leading to increased lean body mass and decreased fat mass, as well as decreased subcutaneous and visceral adiposity without overall changes in body mass index. There may be at least transient deterioration in glucose homoeostasis in some PWS patients on rhGH therapy, which requires further study. In addition, clinical care guidelines for rhGH therapy in adults with PWS were suggested.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.40-43
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• 2015

Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

• Journal of Dental Anesthesia and Pain Medicine
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• 제15권4호
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• pp.251-255
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• 2015

Prader-Willi syndrome (PWS) is a rare genetic disorder reported rarely in dentistry. Dental practitioners should know the features of PWS because affected patients have a variety of dental symptoms. The current report describes a case of PWS. An 18-year-old male patient presented with traumatic injuries. Initial emergency treatments were performed under sedation, and further treatments were conducted under general anesthesia. After adequate healing, periodic follow-up and dietary management according to the patient's age and nutritional phase were recommended. Dental management of PWS patients consists of active preventive measures in addition to dietary consultation according to age and nutritional phase.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권2호
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.