Korean
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Clinical Dysmorphology 2013-Jan

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

등록 된 사용자 만 기사를 번역 할 수 있습니다.
로그인 / 가입
링크가 클립 보드에 저장됩니다.
Vladimir Kuburović
Jan D Marshall
Gayle B Collin
Keith Nykamp
Nina Kuburović
Tatjana Milenković
Sanja Rakić
Milena Djuric
Jovana Ječmenica
Svetislav Milenković

키워드

요약

Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström syndrome. Two age-matched, unrelated adolescent males of Serbian descent with Alström syndrome underwent an extensive workup of blood chemistries, and ophthalmological, audiological, and genetic evaluations. Although both showed typical features of Alström syndrome in childhood, several differences were observed that have not been reported previously. Patient 1 was first studied at the age of 13 years for multisystemic disease and re-evaluated at the age of 15.5 years. Patient 2 is a 15-year-old boy who presented at birth with epilepsy and psychomotor developmental delay and generalized tonic-clonic seizures with severe cognitive impairment, features not documented previously in this syndrome. Sequencing analysis indicated two novel ALMS1 mutations in exon 8: p.E1055GfsX4 and p.T1386NfsX15. Metabolic and physiological similarities were observed in both patients, including severe insulin resistance, and truncal obesity with fat loss suggestive of partial lipodystrophy, supporting evidence for a role for ALMS1 in adipose tissue function. The unusual phenotypes of clonic-tonic seizures and severe cognitive abnormalities and lipodystrophy-like adiposity pattern have not been documented previously in Alström syndrome and may be an under-reported abnormality.

페이스 북
페이지에 가입하세요

과학이 뒷받침하는 가장 완벽한 약초 데이터베이스

  • 55 개 언어로 작동
  • 과학이 뒷받침하는 약초 치료제
  • 이미지로 허브 인식
  • 인터랙티브 GPS지도-위치에 허브 태그 지정 (출시 예정)
  • 검색과 관련된 과학 출판물 읽기
  • 효과로 약초 검색
  • 관심사를 정리하고 뉴스 연구, 임상 실험 및 특허를 통해 최신 정보를 확인하세요.

증상이나 질병을 입력하고 도움이 될 수있는 약초에 대해 읽고 약초를 입력하고 사용되는 질병과 증상을 확인합니다.
* 모든 정보는 발표 된 과학 연구를 기반으로합니다.

Google Play badgeApp Store badge