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Heterozigot Faktör V Leiden Mutasyonlu Yenidoğanda Renal Ven Trombozu

Renal Vein Thrombosis in A Newborn With Heterozygous Factor V Leiden Mutation

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2004

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Keywords (Original Language):

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Abstract (2. Language): 
Renal vein thrombosis during neonatal period is a rare clinical presentation; dehydration, sepsis, umbilical catheterisation and conditions with increased tendency for coagulation are among the predisposing factors. In this report, a newborn with dehydration and heterozygous factor V Leiden mutation, who developed bilateral renal vein thrombosis is presented. On physical examination of an 11 day old girl who presented with fever, restlesness and inability to suck, 3rd degree dehydration and large palpable right kidney were detected. On laboratory examination; anemia (Hb:8.1g/dl), leukocytosis (20 400/mm3), thrombocytopenia (58 000/mm3), erythrocyte fragmentation, disturbed renal functions (BUN 140 mg/dl, creatine in 4.4 mg/dl), hypernatremia (Na: 172 mEq/L), hyperkalemia (K:5.5 mEq/L) and macroscopic hematuria were detected. On abdominal ultrasonography the kidneys were large and slightly hyperechogenic. Based on these findings, the girl was thought to have bilateral renal vein thrombosis and peritoneal dialysis was initiated as supportive therapy. Peritoneal dialysis treatment was discontinued since renal functions became normal. On ultrasonography performed when the patient was 7 months old, the right kidney was small and the size and echogenecity of the left kidney had returned to normal. In the investigations for the etiology of renal vein thrombosis; the levels of protein C and proteins were low; (56.1% and 50.2% respectively; normal ranges 70-140% and 70-123%) with activated protein C resistance (0.96, >1.10) and heterozygous factor V Leiden mutation. With this report we aimed to emphasize that in all renal vein thrombosis cases other factors predisposing to coagulopathy should be investigated; even when an underlying condition -in this case, dehydration- is present
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Abstract (Original Language): 
Renal ve n trombozu yenidoğan döneminde nadir görülen bir klinik tablo olup, predispozan faktörler arasında dehidratasyon, sepsis, umbilikal venöz kateter ve koagülasyon riskinin arttığı durumlar bildirilmiştir. Bu makalede dehidratasyon ve heterozigot faktör V Leİden mutasyonu olan bir yenidoğanda gelişen bilateral renal ven trombozu vakası sunulmaktadır. On bir günlükken emmeme, huzursuzluk, ateş şikayetleriyle başvuran kız hastanın fizik muayenesinde 3. derece dehidratasyon bulguları ve palpe edilebilen büyümüş sağ böbrek saptandı. Laboratuvar incelemesinde anemi (Hb: 8.1g/dl), lökositoz (20 400/mnr), trombositopeni (58 000/mm3), periferik yaymada seyrek eritrosit fragmantasyonu, renal fonksiyon bozukluğu (BUN 140 mg/dl, kreatinin 4.4 mg/dl), hipernatremi (172 mEq/L), hiperkalemi (5.5 mEq/U ve makroskopik hematüri saptandı. Abdominal ultraso-nografide böbrekler büyük ve hafif hiperekojen bulundu. Bu bulgularla bilateral renal ven trombozu düşünülen hasta, akut böbrek yetmezliği olması nedeniyle periton diyalizi açılarak destekleyici tedavi verildi. Böbrek fonksiyonları düzelen hastanın yedi aylıkken yapılan abdominal ultrasonografisinde sağ böbreğin küçüldüğü, sol böbrek boyut ve ekojenitesinin normale döndüğü görüldü. Renal ven trom-bozunun etiyolojisine yönelik yapılan incelemelerde protein C ve protein S düzeyleri düşük (%56.1 ve %50.2, normalleri %70-140 ve%70-123) bulunan hastada aktive protein C direnci 0.96 (normali>1.10) ve heterozigot faktör V Leiden mutasyonu saptandı. Sonuç olarak renal ven trombozu görülen tüm vakaların altta yatan başka bir predispozan neden bulunsa dahi koagülopati yönünden araştırılması gerektiği vurgulanmak istendi.
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  • 2
96-99
  • Turkish

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