Antenatal Saptanan Böbrek Kisti Sebebiyle Başvuran Olgu
Özet
Gebeliğin ikinci trimesterinde batında kistik yapılar saptanan 31 yaşındaki hastanın (G3P2A1Y1) izleminde, üçüncü trimesterde batında en büyüğü 80x127 mm boyutlarında multipl kistik lezyonlar görülmüş ve sağ böbrek izlenememiştir. Postnatal 38. gebelik haftasında sezaryenle doğan ve solunum sıkıntısı nedeniyle yenidoğan yoğun bakım ünitesine yatırılan kız bebeğin muayenesinde batında distansiyon ve sağ kadrandan orta hatta uzanan kitle saptanmıştır. Yapılan postnatal ultrasonografide (USG), sol böbrekte evre-2 üriner sistem dilatasyonu (hidronefroz) ve sağ böbrek lojunda parankimi seçilemeyen 160x110 mm boyutlarında çok sayıda multiloküle kistik lezyon (sağ multikistik displastik böbrek - MKDB) rapor edilmiştir. İzlemde serum kreatinin değerinin 1,6 mg/dL'ye yükselmesi, safralı kusmalar ve beslenememe gibi atipik bulgular gelişmesi üzerine ileri tetkik olarak batın/pelvik MRG ve işeyici sistoüretrografi (İSUG) çekilmiştir. Görüntülemeler sonucunda sol böbrekteki hidronefrozun, batındaki dev kistik kitlenin üretere yaptığı basıdan kaynaklandığı anlaşılmıştır. Bu doğrultuda, bası semptomlarını ortadan kaldırmak amacıyla postnatal 7. günde sağ nefrektomi uygulanmış ve patoloji sonucu difüz MKDB ile uyumlu bulunmuştur. Vakanın genetik analizinde ise kistik böbrek hastalıkları ve hipomagnezemi ile ilişkili olan 17q12 mikrodelesyon sendromu (HNF1β gen delesyonu dahil) tespit edilmiştir.
During the routine follow-up of a 31-year-old pregnant patient (G3P2A1Y1), cystic structures were detected in the fetal abdomen during the second trimester, and multiple cystic lesions with a maximum size of 80x127 mm were observed in the third trimester along with a non-visualized right kidney. Born via cesarean section at the 38th gestational week and admitted to the neonatal intensive care unit due to respiratory distress, the female infant exhibited abdominal distension and a palpable mass extending from the right quadrant to the midline during physical examination. Postnatal ultrasonography (USG) revealed stage-2 urinary tract dilation (hydronephrosis) in the left kidney and multiple multilocular cystic lesions measuring 160x110 mm without identifiable renal parenchyma in the right kidney area, consistent with right multicystic dysplastic kidney (MCDK). Due to atypical findings including a gradual increase in serum creatinine to 1.6 mg/dL, bilious vomiting, and feeding intolerance, abdominal/pelvic MRI and voiding cystourethrography (VCUG) were performed. Imaging results confirmed that the left hydronephrosis was caused by ureteral compression from the massive abdominal cystic mass. Consequently, a right nephrectomy was performed on the postnatal 7th day to relieve compression symptoms, and the pathology confirmed diffuse MCDK. Genetic analysis of the infant identified a 17q12 microdeletion syndrome (encompassing the HNF1β gene), which is typically associated with cystic kidney diseases and hypomagnesemia.
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