Autosomal Recessive Polycystic Kidney Disease
نویسنده
چکیده
A 25-year-old pregnant female reported at 28 weeks of gestation with non specific abdominal pain. On evaluation, the ultra-sonogram revealed a single live fetus in breech presentation. Placenta was anterior and high and there was severe oligohydramnios. Both fetal kidneys were enlarged in size (occupying most of the abdominal cavity) and homogenously hyperechoic & studded with numerous variable sized cysts. Besides, cisterna magna was also prominent. There was no other significant past medical or surgical history and she had delivered one healthy male child before three years. Both spouses were normal on clinical evaluation and there was no family history of renal diseases on the either side. Ultrasonogram ruled out any features of renal diseases in both spouses and the first child. The diagnosis of autosomal recessive polycystic kidney disease (ARPKD) was made on the basis of fetal imaging and absence of any family history of renal disorders. The pregnancy delivered vaginally at 32 weeks of gestation. The baby had severe respiratory distress and died within the first few hours of life. No pathological post-mortem or DNA analysis was possible due to logistic issues.
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
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