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Tip 1 Glikojen Depo Hastalığı Olan Bir Çocukta Distal Renal Tübüler Disfonksiyon ve Kalsiyum Taş Hastalığı: Vaka Sunumu

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2004

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Type 1 glycogen storage disease is caused by glucose-6-phospha-tase deficiency and nephrolithiasis is the most common renal compli¬cation. Although urate stones are the most common stone type, meta¬bolic alterations favoring calcium nephrolithiasis has also been desc¬ribed in these patients. We report a pediatric case with type 1 glycogen storage disease presenting with recurrent macroscopic hematuria that was diagnosed to have calcium stone disease. The patient had multiple metabolic abnormalities including hypercalciuria, hyperoxa-luria, hypocitraturia and hypomagnesuria.
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Abstract (Original Language): 
Tip 1 glikojen depo hastalığı glukoz-6-fosfataz eksikliği sonucu oluşur ve nefrolitiyazis en sık renal komplikasyonudur. Ürat taşları en sık görülen taş tipi olsa da, bu vakalarda meydana gelen metabolik değişiklikler sonucu kalsiyum taşları da bildirilmektedir. Bu yazıda tip 1 glikojen depo hastalığı tanısı ile izlenen, tekrarlayan makroskopik he-matüri nedeni ile kliniğimize başvuran ve kalsiyum taş hastalığı saptanan bir vaka sunulmaktadır. Vakada aynı zamanda hiperkalsiüri, hipe-roksalüri, hipositratüri ve hipomagnezüriyi içeren birçok metabolik anormallik de saptanmıştır.
FULL TEXT (PDF): 
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  • 3
182-185
  • Turkish

REFERENCES

References: 

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