The frequency of cystinuria in Sivas Province is the highest among the other populations studied to date. The frequency of M467T mutation is relatively higher than those reported for most populations. High frequency of cystinuria in this region could be due to consanguineous marriages.
ÖZETÇocuklardaki Visceral Leishmaniasis (VL), sıklıkla 2-4 yaş arasında görülür ve infeksiyon uzun süren ateş, halsizlik, kilo kaybı, hepatosplenomegali ve pansitopeniye sebep olur. Türkiye'deki VL etkeni Leishmania infantum'dur. Bu çalışmada 4 pediatrik VL hastası retrospektif olarak incelenmiştir. Kemik iliği aspirasyonu 2 hastaya yapıldı ve Leishmania amastigotları saptanamadı.Tüm hastalarda Leishmania antikorları indirek immun floresan antikor (IFAT) ile pozitif bulundu. IFAT'ın pediatrik hastalarda güçlü klinik şüphe var ise VL'in kesin tanısında parazit saptanması için uygun bir alternatif olduğunu düşünmekteyiz. (Turkiye Parazitol Derg 2011; 35: 114-6
Cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. Cystine stones frequently occur in the second or third decade of life with an occasional occurrence in infancy and in old age. Herein is presented the case of a 1-yearold girl with cystinuria and recurrent urolithiasis; the genetic basis of the disease was investigated by mutational analysis of the SLC3A1 gene. The data show that the present patient has an increased cystine (923.08 µg/mL) level and was heterozygote for M467T mutation.
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