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Kronik Böbrek Yetmezlikli Nadir Bir Olgu: Laurence Moon Bardet Biedl Sendromu

A Rare Case of Chronic Renal Failure: Laurence Moon Bardet Biedl Syndrome

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2012
DOI: 
DOI 10.5262/tndt.2012.1002.16

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
The Laurence Moon Bardet Biedl syndrome (LMBBS), is a rare autosomal recessive disorder characterized by obesity, mental retardation, polydactly, hypogonadism and retinitis pigmentosa. Kidney failure, diabetes mellitus, insulin resistance, hypertension and liver fibrosis which are not included among the criteria for the diagnosis of the disease can also be seen in these patients. End stage renal disease that develops as a result of progressive deterioration in renal function is the most frequent cause of death. In this case report, a 17-year-old male patient with LMBBS who had a neck abscess, high urea- creatinine levels and metabolic acidosis is reported.
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Abstract (Original Language): 
Laurence Moon Bardet Biedl Sendromu (LMBBS); otozomal resesif geçişli, obezite, mental retardasyon, polidaktili, hipogonadizm ve retinitis pigmentoza ile karakterize nadir görülen bir bozukluktur. Hastalığın tanı kriterleri arasında yer almasa da bu hastalarda, böbreklerde yapısal anomali ve fonksiyon bozukluğu, diabetes mellitus, insülin direnci, hipertansiyon ve karaciğerde fibrozis de görülebilmektedir. Renal fonksiyonlarda progresif bozulma sonucu gelişen son dönem böbrek yetersizliği en sık ölüm nedenidir. Bu olgu sunumunda, boyun apsesi, üre, kreatinin değerlerinde yükseklik ve metabolik asidozla başvuran 17 yaşında bir Laurence Moon Bardet Biedl sendromu olgusunun paylaşması amaçlandı.
FULL TEXT (PDF): 
PDF icon arastrmx_172977_21_pp_189-192.pdf
  • 2
189-192
  • Turkish

REFERENCES

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