Prenatal renal oligohydramnion and renal function in newborns and infants with cystic kidney diseases

THE AIM:to describe the causes, pathogenesis, clinical course and outcome of Potter sequence in children with cystic kidney disease. PATIENTS AND METHODS:the follow-up study of 23 newborns with cystic kidney disease was studied, in which renal oligohydramnios (ROH) was confirmed prenatally by ultrasound (US). RESULTS:Of the 155 children with autosomal dominant polycystic kidney disease (ADPKD), 8 (5,2 %) prenatal after 30 weeks of gestation established ROH, at 26-32 weeks of gestation – cyst in the kidney by US, in 2 of them ROH confirmed simultaneously with the detection of cysts in kidneys of a fetus, 6 – late detection of kidney cysts. Of the 8 newborns with a very early onset ADPKD, prenatal developed in ROH conditions, in 2 (25 %) in the neonatal period diagnosed the Potter phenotype. Of the 20 children with autosomal recessive polycystic kidney disease (ARPKD), 12 (60 %) prenatally revealed ROH after 18 weeks of gestation prenatally, of these, 8 (67 %) in the neonatal period diagnosed the Potter phenotype. Of the 12 newborns with ARPKD, that developed in ROH conditions, in 5 (42 %) kidney cysts were detected prenatally by US at 32-37 weeks of gestation, in 7 (58 %) in the neonatal period. ROH and the Potter phenotype are more common with ARPKD in the fetus than with ADPKD. Among children with ARPKD and ADPKD undergoing ROH, no statistically significant differences in the frequency of deaths in the neonatal and infancy. The characteristics of course and outcome of the Potter sequence in the neonatal and infant periods in a boy with deletion of 12p and cystic kidney disease are described. ROH in 2 children with cystic kidneys and coloboma of the optic nerve disc did not lead to the formation of the Potter phenotype. In 15 children with multicystic kidney prenatal US showed no ROH. CONCLUSION: the results of a follow-up study of children after ROH and the course of the Potter sequence for different cystic kidney disease in children are presented.

Renal oligohydramnios and Potter sequence with cystic kidney disease

For the first time in 1946 E.L. Potter (1901–1993) described the characteristic appearance of stillborns and deceased newborns with bilateral renal agenesis. Due to the further observations Potter distinguished the syndrome (Q60.6) – a set of characteristic external signs that are formed due to the extreme degree of oligohydramnios and intrauterine compression of the fetus. Classical Potter syndrome is diagnosed by the disfunction of both kidneys in the fetus (for example, bilateral agenesis), which leads to death. The term «Potter sequence» or oligohydramnios sequence with diverse causes has received the wide clinical use. The term «renal oligohydramnios» (ROH) is used to describe oligohydramnios resulting from a decrease or absence of fetal kidney function. The authors state that renal oligohydramnios and Potter sequence often develop in the fetus with cystic kidney disease with the formation of cysts in the parenchyma of both kidneys (autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, glomerulocystic kidney disease associated with HNF1ß/TCF2 gene mutations, renal-coloboma syndrome, cystic renal hypoplasia, cystic renal dysplasia with mutations of the CEP55 gene).

Rare manifestations of Potter Sequence: A Case Report

Potter sequence is a rare congenital malformation that primarily affects male fetuses and is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbsor limbs in abnormal positions or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. We presented a male baby of 35 wks gestation with birth weight 1200gms delivered by primi mother. She had severe oligohydramnios and virtually there was no liquor during birth. The baby had severe perinatal depression at birth requiring resuscitation. Multiple congenital anomalies like absence of left eye, congenital cataract on the right eye, right-sided choanal atresia, micrognathia, low set ears, beaked nose, bilateral clubbed foot with hip deformity were noted. After 2 hours of life,baby developed fast breathing and cyanosis and died due to respiratory failure.

Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1

BackgroundPrenatally detected oligo- or even anhydramnios may – beside other reasons – be indicative for a diminished or absent urine production. The resulting clinical picture is a “Potter sequence” with arthrogrypotic joint contractions, a flat face and most importantly pulmonary hypoplasia. In severe cases this pulmonary hypoplasia can be life-limiting irrespective of the underlying lesion.Case presentationOur patient initially presented with anhydramnios and normal kidneys at external ultrasonography after 31 weeks of pregnancy. Following spontaneous birth after 37 weeks of gestation, the baby boy was born with all the clinical signs of a “Potter-sequence” along with a severe pulmonary hypoplasia leading to insufficient oxygenation and ventilation. Despite all measures taken, the child died after 8 h of life. Beside life-limiting pulmonary hypoplasia postmortem examination again confirmed macroscopically normal kidneys, but microscopy showed compact and variable sized glomeruli, numerically reduced and immature tubules, a structurally altered renal vascular bed and an expanded medullar interstitium. Immunohistochemical studies revealed the absence of proximal convoluted tubules, shortened proximal straight tubules beside an immaturity and dysmorphogenesis of the other segments of the nephron, and thus proved renal tubular dysgenesis (RTD) as the underlying disease. A homozygous mutation c.377G>C (p.Arg126Pro) in exon 2 of the AGTR1 gene was found, leading to the exchange of a highly conserved arginine to proline. This mutation has not been reported in public databases so far. As expected, both consanguineous parents were heterozygous for this mutation.ConclusionRTD has to be considered in an anuric fetus with apparently normal renal sonography in order to allow adequate prenatal counseling and – if indicated – palliative postnatal care.