1/65. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/65. Hereditary renal adysplasia in a three generations family.Renal agenesia is one of the more common urinary malformations. Renal agenesia can be unilateral, more frequently, or bilateral. This malformation can be isolated or present with other urinary and/or extra urinary anomalies. We report a family with renal agenesia. The proband was a fetus. Ultrasonographic examination at 15 weeks of gestation showed a left renal agenesia and a right multicystic kidney, absence of bladder and oligohydramnios. The same features were found at 19 weeks of gestation. The couple asked for termination of pregnancy. On pathologic examination the absence of left kidney was confirmed whereas the right kidney which measured 3.5 cm was filled with numerous cysts of 0.2 cm to 1 cm. of diameter and fibrosis. According to the Potter's classification these images are characteristic of a dysplasia type II. There was no hepatic fibrosis. family history revealed that the mother is in good health, she had previously a normal son. The father had a unilateral renal agenesia which was diagnosed after he had arterial hypertension when he was 25-years-old. The paternal grand father and his brother had unilateral renal agenesia which was shown by screening. This family shows that renal agenesia can be autosomal dominantly inherited and that the expressivity of this anomaly is variable.- - - - - - - - - - ranking = 2.2313045422159keywords = pregnancy, gestation (Clic here for more details about this article) |
3/65. Severe fetal cytomegalic inclusion disease after documented maternal reactivation of cytomegalovirus infection during pregnancy.Recurrent cytomegalovirus infection during pregnancy is considered less dangerous for the fetus than primary infection. We present a case of severe fetal cytomegalic inclusion disease after maternal reactivation of cytomegalovirus during the first trimester of pregnancy. The possibility of such fetal injury is an argument for prenatal diagnosis in seropositive pregnant women when ultrasonographic findings suggest cytomegalovirus infection.- - - - - - - - - - ranking = 7.3878272532956keywords = pregnancy (Clic here for more details about this article) |
4/65. Spontaneous rupture of hydronephrotic kidney during pregnancy: value of serial sonography.hydronephrosis during pregnancy is common but rarely results in renal rupture. We report an unusual case of spontaneous rupture of a hydronephrotic kidney during pregnancy. Although we could not predict the renal rupture on the basis of sonographic findings, serial sonography was useful in the early detection and management of the rupture.- - - - - - - - - - ranking = 7.3878272532956keywords = pregnancy (Clic here for more details about this article) |
5/65. Successful treatment of bilateral renal fungal balls with liposomal amphotericin B and fluconazole in an extremely low birth weight infant.At the age of 8 weeks, an extremely low birth weight infant (gestational age 26 0/7 weeks, birth weight 740 g) had non-obstructing bilateral renal fungal balls. urine cultures had repeatedly grown candida albicans. Combination therapy with liposomal amphotericin b intravenously and fluconazole orally was administered for 6 weeks. Monotherapy with fluconazole was then continued until complete resolution of the renal fungal balls. CONCLUSION: Combination therapy with liposomal amphotericin b and fluconazole was successful in eliminating non-obstructing bilateral renal fungal balls and obviated the need for surgical intervention.- - - - - - - - - - ranking = 0.5keywords = gestation (Clic here for more details about this article) |
6/65. Ipsilateral renal dysplasia with hypertensive heart disease in an infant with cutaneous varicella lesions: an unusual presentation of congenital varicella syndrome.A child with congenital varicella syndrome including cutaneous lesions and ipsilateral renal dysplasia with hypertensive heart disease is described. Varicella was contracted during the tenth week of gestation. Typical congenital varicella bullae, high titer of anti-varicella-zoster virus IgM, and a small right kidney were noted after birth. Hypertensive heart disease resulting from renal dysplasia occurred at 1 year of age. The cutaneous lesions and the dysplastic kidney involved the same dermatomes. nephrectomy proved to be the treatment of choice for hypertension and congestive heart failure.- - - - - - - - - - ranking = 0.5keywords = gestation (Clic here for more details about this article) |
7/65. Embolisation of renal arteriovenous malformation (AVM) in pregnancy.A case of congenital renal arteriovenous malformation (AVM), presenting with profuse haematuria in the second trimester of pregnancy is reported. Selective embolisation with polyvinyl alcohol particles and absolute alcohol successfully ablated the lesion and a healthy infant was delivered at term five months later. Renal angiography at three years showed no evidence of the lesion.- - - - - - - - - - ranking = 6.1565227110797keywords = pregnancy (Clic here for more details about this article) |
8/65. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.The hepatocyte nuclear factor-1beta (HNF-1beta) transcription factor controls endoderm development. Human mutations cause early-onset diabetes mellitus and have recently been associated with dysplastic, hypoplastic, and glomerulocystic kidneys. A new kindred with this "renal cysts and diabetes" syndrome is described, and nephrogenic HNF-1beta expression is defined. The proband had congenital cystic kidneys: over the next 12 yr, his renal function was impaired, but he was normoglycemic. His mother developed diabetes during pregnancy: renal ultrasonography at age 24 yr was normal, but she subsequently developed cysts. Both subjects have a heterozygous frameshift mutation in HNF-1beta that results from a 1-bp insertion in exon 5 (Y352fsinsA). When reverse-transcription PCR and in situ hybridization were used, HNF-1beta mRNA was detected in normal human metanephroi, with the highest levels of transcripts localized to fetal medullary and cortical collecting ducts and low levels of expression in nephrogenic cortex mesenchyme, primitive nephron tubules, and immature glomeruli. These results constitute the first demonstration of HNF-1beta expression during human nephrogenesis and emphasize a disease spectrum associated with HNF-1beta mutation.- - - - - - - - - - ranking = 1.2313045422159keywords = pregnancy (Clic here for more details about this article) |
9/65. Spontaneous rupture of the renal pelvis during pregnancy: a case report and review of the literature.We report a case with spontaneous rupture of the renal pelvis during pregnancy. A 34-year-old Japanese woman was referred at 20 weeks' gestation because of sudden severe right flank pain. She had severe colic pain radiating to the right lower abdomen with percussion tenderness at the right costovertebral angle and was initially suspected to have renal/ureteral calculi. ultrasonography and intravenous pyelography showed urine extravasating from the renal pelvis, indicating rupture of the right renal pelvis. Immediately following the insertion of a double-J indwelling catheter, her symptoms and perirenal extravasation ceased. She had no further urological problems during pregnancy and a male infant was delivered at 41 weeks' gestation. Cases with spontaneous rupture of the renal pelvis in pregnancy are reviewed.- - - - - - - - - - ranking = 9.6191317955115keywords = pregnancy, gestation (Clic here for more details about this article) |
10/65. rupture of the renal pelvis associated with intravenous fluid bolus.Previously reported cases of spontaneous rupture of the kidney or ureter reflect underlying renal pathology and have been reported both spontaneously and in relationship to delivery, but not in relation to other operative procedures. A 27-year-old woman at 19 weeks' gestation developed severe right flank pain in the operating room immediately prior to cerclage placement. Postoperative renal ultrasound examination and intravenous pyelogram performed to evaluate persistent flank pain demonstrated renal pelvis rupture. No other renal abnormality was present. We postulated that increased urine flow from the fluid bolus for the spinal anesthetic precipitated the rupture.- - - - - - - - - - ranking = 0.5keywords = gestation (Clic here for more details about this article) |
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