Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented of bilateral renal agenesis (Potter syndrome) which was diagnosed before birth. The diagnosis was based on severe oligohydramnios, unrecognizable fetal kidneys and bladder on ultrasound, and failure to demonstrate a fetal bladder after administration of furosemide. Ultrasonic evidence of a hypoplastic thoracic cage provided further support for the intrauterine diagnosis.
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PMID:Antenatal diagnosis of Potter syndrome. 68 46

The clinical and pathological features of oligohydramnios associated with severe pulmonary hypoplasia are described in 10 infants without renal anomalies. In 8 patients the condition was associated with prolonged premature rupture of the membranes at 16 and 36 weeks of gestation in a study of 244 patients (3.3%). Seven of the infants died of respiratory failure within 24 hours of delivery; the other infant survived. In the remaining 2 patients with severe oligohydramnios at term, but unassociated with premature rupture of the membranes, both infants succumbed. Problems with resuscitation should be anticipated in pregnancies complicated by prolonged leakage of amniotic fluid or oligohydramnios, and pulmonary hypoplasia should be recognized as a cause of respiratory distress. Apart from the ultrasonic predelivery confirmation of normal kidneys to exclude Potter's syndrome it is recommended that ultrasonic assessment of thoracic cage volume should be made before delivery.
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PMID:Premature rupture of the membranes, oligohydramnios and pulmonary hypoplasia. 694 54

Compression of the fetal thorax by the uterine wall is one of the theories proposed to explain the mechanism of lung hypoplasia in association with oligohydramnios. However, the reduction in the intrathoracic space and the evidence of compression on the fetal thorax have not been demonstrated in detail. Therefore an experimental study was planned to determine the effects of oligohydramnios on available intrathoracic space and lung volume in the rabbit fetus. Amniotic fluid was shunted into the peritoneal cavity between 23 and 31 days of gestation. Intrathoracic space and lung volumes (TV and LV), and lung and body weight (LW and BW) values were measured in our study and control fetuses at term. Lung weight/body weight, lung volume/thorax volume, thorax volume/body weight ratios were calculated and the values of the fetuses with shunting and controls were compared. The difference between TV/BW ratios was not significant. LW/BW and LV/TV ratios were significantly reduced in experimental fetuses compared to the controls. Chronic drainage of amniotic fluid into the peritoneal cavity resulted in reduced LW/BW and LV/TV ratio, but did not effect TV/BW ratio. The low LV/TV ratio in the fetuses with shunting despite similar TV/BW ratio suggested that the diaphragm had been elevated. This is also an explanation for the observation of reduced chest circumference and chest circumference/abdominal circumference ratio in prolonged premature rupture of the membranes in vivo. The developing fetal lungs would undergo not only transthoracic but also trans-abdomino-diaphragmatic compression. However, it is unlikely in the tubular shaped rabbit uterus. In oligohydramnios amniotic fluid dynamics or physical characteristics with its contents should be disturbed. A previous experimental study with herniation of the amniotic sac causing lung hypoplasia through reduced intraamniotic pressure without oligohydramnios also questioned the role of fetal compression. Although fetal lung development was significantly impaired, the thoracic cage was not affected by amniono-peritoneal shunting. Therefore, we suggest that lung hypoplasia resulted from another mechanism rather than thoracic compression.
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PMID:Is fetal thoracic compression really the underlying mechanism of lung hypoplasia in oligohydramnios? An experimental study in a rabbit model. 916 52

Renal tubular dysgenesis (RTD) is a rare fatal disorder in which there is poor development of proximal tubules, leading to oligohydramnios and the Potter sequences. RTD occurs secondary to renin-angiotensin system (RAS) blockade during the early stages of fetal development or due to autosomal recessive mutation of genes in the RAS pathway. A boy born at 33+1 weeks due to cord prolapse was found to be anuric and hypotensive. Pregnancy was complicated by severe oligohydramnios from gestational age 28+4 weeks. Abdominal sonography revealed diffuse globular enlargement of both kidneys with increased cortical parenchymal echogenicity. Infantogram showed a narrow thoracic cage and skull X-ray showed large fontanelles and wide sutures suggestive of ossification delay. Basal plasma renin activity was markedly elevated and angiotensin-converting enzyme was undetectable. Despite adequate use of medications, peritoneal dialysis, and respiratory support, he did not recover and expired on the 23rd day of life. At first, autosomal recessive polycystic kidney disease was suspected, but severe oligohydramnios along with refractory hypotension, anuria, skull ossification delay and high renin levels made RTD suspicious. ACE gene analysis revealed compound heterozygous pathogenic variations of c.1454.dupC in exon 9 and c.2141dupA in exon 14, confirming RTD. Based on our findings, we propose that, although rare, RTD should be suspected in patients with severe oligohydramnios and refractory hypotension.
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PMID:A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis. 3280 12