Antenatal Megasistis Tanılı Olgu
Özet
24 yaşında bir gebe olgunun 13. gestasyonel haftasında yapılan ultrasonografide bilateral böbreklerde hidronefroz, megasistis ve oligohidramnioz saptanmıştır. Mesanesi normalden büyük ve kalın duvarlı olup posterior üretrada anahtar deliği görünümü mevcuttur. Konjenital alt üriner sistem obstrüksiyonu (AÜSO) ön tanısı konulan bu olguda, erkek fetüslerde en yaygın neden posterior üretral valvdir. AÜSO sıklıkla pulmoner hipoplaziye ve neonatal ölüme yol açan oligohidramnios ile ilişkilidir. Tanı doğruluğunu artırmak amacıyla fetal idrar analizi (vezikosentez) yapılmış; artan beta-2 mikroglobulin ve yüksek sodyum, klor ve osmolalite seviyeleri gibi olumsuz biyokimyasal parametreler ile karyotip analizi normal saptanmıştır. Ailenin onayıyla 15. haftada vezikoamniotik şant takılmış fakat şant 17. haftada spontan olarak düşmüştür. İkinci müdahaleyi ailenin kabul etmemesi üzerine gebelik takibine devam edilmiştir. Fetal distress nedeniyle 35. haftada doğan bebekte şiddetli dispne, siyanoz ve metabolik asidoz gelişmiştir. Ekokardiyografide pulmoner hipertansiyon, batın ultrasonunda ise şiddetli hidroüreteronefroz ve kalınlaşmış mesane duvarı saptanmıştır. Yoğun ventilasyon, sürfaktan tedavisi ve göğüs tüpü uygulamalarına rağmen hasta kardiyopulmoner yetmezlik nedeniyle eksitus olmuştur. Vezikoamniotik şant uygulaması fetal hayatta kalma olasılığını artırabilse de, bu vakada olduğu gibi renal fonksiyonların korunmasında ve nihai mortalitenin engellenmesinde her zaman yeterli olamamaktadır.
In a pregnant 24-year-old case at the 13th gestational week, ultrasonography revealed bilateral hydronephrosis, megacystis, and oligohydramnios. The bladder was abnormally large with thick walls, and a keyhole sign was present in the posterior urethra. In this case with a preliminary diagnosis of congenital lower urinary tract obstruction (LUTO), the most common cause in male fetuses is posterior urethral valve. LUTO is strongly associated with severe oligohydramnios, which leads to pulmonary hypoplasia and neonatal death. To improve diagnostic accuracy, fetal urine analysis (vesicocentesis) was performed, revealing poor biochemical markers such as elevated beta-2 microglobulin, sodium, chlorine, and osmolality, while the karyotype was normal. With parental consent, a vesicoamniotic shunt was placed at 15 weeks but spontaneously dislodged at 17 weeks. Following the family's refusal of a second intervention, perinatological follow-up continued. Delivered at 35 weeks due to fetal distress, the newborn exhibited severe dyspnea, cyanosis, and metabolic acidosis. Echocardiography showed pulmonary hypertension, and abdominal ultrasound revealed severe hydroureteronephrosis with a thick bladder wall. Despite intensive ventilation, surfactant, and chest tube insertion, the patient passed away from cardiopulmonary failure. While vesicoamniotic shunting can improve perinatal survival, it remains insufficient for long-term preservation of renal function and preventing mortality.
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