Caspian Journal of Internal Medicine
Babol University of Medical Sciences
سه شنبه 13 خرداد 1404
[Archive]
دوره 13، شماره 4 - ( 7-1401 )
جلد 13 شماره 4 صفحات 809-805 |
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Edwar M, Ragab U, Atia Kamel A. Bardet-Biedl syndrome: The longer we miss, the worse is the outcome. Caspian J Intern Med 2022; 13 (4) :805-809
URL: http://caspjim.com/article-1-2539-fa.html
URL: http://caspjim.com/article-1-2539-fa.html
Bardet-Biedl syndrome: The longer we miss, the worse is the outcome. . 1401; 13 (4) :805-809
چکیده: (2499 مشاهده)
Background: Bardet-Biedl syndrome (BBS) is characterized by obesity, cognitive abnormalities, rod-cone dystrophy, skeletal abnormalities, and many other secondary features.
Case Presentation: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonadism and learning difficulties. Renal insufficiency in form of acute kidney injury was the presenting feature and this explain the worse outcome. The diagnosis was delayed despite being classic. This delay in diagnosis leads to a lot of complications that worsen the patient's condition.
Conclusion: The characteristics of BBS should be noted by doctors because an early diagnosis will result in a better outcome. The case was prone to numerous consequences due to the delay in diagnosis, which could have been avoided if an early diagnosis had been established.
Case Presentation: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonadism and learning difficulties. Renal insufficiency in form of acute kidney injury was the presenting feature and this explain the worse outcome. The diagnosis was delayed despite being classic. This delay in diagnosis leads to a lot of complications that worsen the patient's condition.
Conclusion: The characteristics of BBS should be noted by doctors because an early diagnosis will result in a better outcome. The case was prone to numerous consequences due to the delay in diagnosis, which could have been avoided if an early diagnosis had been established.
نوع مطالعه: case report |
موضوع مقاله:
Endocrinology
دریافت: 1399/7/14 | پذیرش: 1399/10/29 | انتشار: 1401/7/2
دریافت: 1399/7/14 | پذیرش: 1399/10/29 | انتشار: 1401/7/2
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