Potter's syndrome describes the typical physical appearance caused by pressure in utero due to oligohydramnios, classically due to bilateral renal agenesis (BRA) but it can occur with other conditions, including infantile polycystic kidney disease, renal hypoplasia and obstructive uropathy. Some feel that Potter's sequence is more appropriate terminology since not every individual with the syndrome has exactly the same set of symptoms and signs but rather they share a common chain of events, triggered by different causes, leading to the same endpoint of reduced or absent amniotic fluid.
Kidneys develop between weeks 5 and 7 of fetal gestation with ongoing urine production from about week 14. Amniotic fluid is a dynamic product. Fetal urine is the main contributor to production from the second trimester. Fetal swallowing recycles the amniotic fluid. Any disease that impairs urine production causes oligohydramnios, whilst diseases that impair fetal swallowing, such as oesophageal atresia and anencephaly, cause polyhydramnios. Potter's syndrome may also result from maternal causes of oligohydramnios that do not involve the urogenital system, such as prolonged rupture of membranes. Amniotic fluid is critical to alveolar development. Without it, the consequences are pulmonary hypoplasia and respiratory distress at birth.
- Classic Potter's syndrome - due to BRA. BRA usually occurs in isolation, but may occur as part of 'VATER' or branchio-oto-renal syndromes. VATER syndrome is a nonrandom cluster of birth defects, cause as yet unknown:
- V ertebral and vascular anomalies
- A nal atresia
- T racheo-oesophageal fistula
- (O)E sophageal atresia
- R enal anomalies radial dysplasia)
- Type I - due to autosomal recessive polycystic kidney disease.
- Type II - usually due to renal agenesis or hereditary renal adysplasia. BRA is the most extreme phenotypic variation.
- Type III - due to autosomal dominant polycystic kidney disease.
- Type IV - due to chronic obstruction of the kidneys or ureter resulting in hydronephrosis or cystic kidneys.
- Add notes to any clinical page and create a reflective diary
- Automatically track and log every page you have viewed
- Print and export a summary to use in your appraisal
- Bilateral renal agenesis (BRA) is thought to occur in 1 in 5,000 births whilst unilateral renal agenesis (URA) is more common and occurs in about 1 in 1,000.
- An Italian study showed a 5:2 male:female ratio. Potter's original series similarly showed a marked surplus of boys with renal agenesis.
- Cystic kidney disease shows equal sex distribution and affects approximately 1 in 2,000 births.
Any cause of oligohydramnios but especially:
- Infantile polycystic kidney disease
- Posterior urethral valves
- Prolonged rupture of membranes
- Ultrasound scanning may demonstrate oligohydramnios and/or a congenital urological malformation. Serial ultrasounds should be used to monitor fetuses with suspected Potter's syndrome.
- Ultrasound findings may show:
- Renal agenesis.
- Hydronephrosis (suggestive of obstructive uropathy).
- Hyperechoic fetal kidneys (suggestive of polycystic disease).
- Doppler ultrasonography of pulmonary artery blood velocity waveforms can be used to monitor the development of pulmonary hypoplasia. Estimates of relative lung volume in fetuses suspected of pulmonary hypoplasia can be obtained using 3D ultrasound or MRI scanning.
- Potter's facies have a characteristic appearance:
- Flattened 'parrot-beaked' nose.
- Recessed chin.
- Prominent epicanthal folds.
- Low-set, cartilage-deficient ears (known as 'Potter's ears').
- Pulmonary hypoplasia is usual with oligohydramnios resulting in respiratory distress at birth. Its severity correlates with the severity of the oligohydramnios and its duration.
- Anuria or oliguria may be noted or a very weak urine stream associated with posterior urethral valves.
- Ophthalmic abnormalities include:
- Angiomatous malformation in the optic disc area.
- Prolapse of the lens.
- Cardiovascular malformations may be found, including:
- Associated musculoskeletal malformations include:
- There may also be abnormalities in the development of the brain.
- Check urea, electrolytes and creatinine to assess renal function. Glomerular filtration rate should be calculated.
- Check FBC as anaemia may result from erythropoetin deficiency.
- Ultrasound is the best technique for imaging of the urinary tract.
- CXR to evaluate lung development and expansion and to look for pneumothorax.
- Echocardiography may be indicated if there is suspicion of cardiac anomaly.
- Chromosomal or genetic analysis.
- Postmortem where the child dies.
Prenatally and following birth, resuscitation decisions should be discussed with the family and based on the child's prognosis. Where a baby is stillborn or dies soon after birth, sensitive care and support of the family should be the priority.
- At birth, respiratory support (ventilation, chest drains) and renal support (peritoneal dialysis) may be required. A period of intensive care is usual.
- Plans may be necessary for correction of cardiovascular defects.
- In the longer-term, treatment of chronic renal disease is required including: nutrition and growth monitoring, electrolyte and renal monitoring, calcium and vitamin D supplementation, treatment of anaemia and antihypertensive medication. If a child progresses to end-stage renal failure, dialysis or transplantation will be needed.
Potter's syndrome with bilateral renal agenesis (BRA) is incompatible with life but babies with Potter's sequence due to other causes have a better chance of survival.
Oligohydramnios of renal origin has tended to be associated with a very poor outcome but this is not invariably so and the outlook may be improving. In one study, looking at long-term outcomes of this condition (with varied causes):
- 7 out of 23 children died, most within the immediate neonatal period, due to pulmonary hypoplasia and renal failure.
- 14 out of 23 children required mechanical ventilation following birth.
- All survivors have chronic renal disease, 8 reaching end-stage renal failure (median time 0.3 years), requiring dialysis and transplantation.
- Growth hormone treatment was required in some of the children for growth failure.
- Developmental delay was present in 4 of the survivors.
A study of antenatal ultrasound screening in 12 European countries has shown that a great many abnormalities of the renal tract may be detected in the second trimester, allowing termination of pregnancy to be considered. There is considerable variation in terms of antenatal ultrasound screening policies and detection rates around Europe.
Preconceptual genetic counselling is advisable following a previously affected child:
- With families with a child affected by bilateral renal agenesis (BRA) (type II), there is an increased risk of congenital renal anomalies (most commonly congenital solitary kidney or duplication of collecting systems) in first- and second-degree relatives and an increased risk of recurrence of BRA in first-degree relatives.
- In adults with autosomal dominant polycystic kidney disease (type III), male fertility may be decreased and pregnant females will require medical monitoring due to increased risk of pre-eclampsia, renal compromise and hypertension during pregnancy. There is also a significant risk (given the autosomal dominant inheritance) that the fetus will be affected, so close monitoring is needed.
Edith Louise Potter (1901-1993) was a Professor of Pathology in Chicago. She qualified in Minnesota in 1925 but worked in the Chicago lying-in hospital from 1956 until she retired in 1967. In a series of 5,000 fetal and neonatal autopsies, she described a group of 17 male and 3 female babies with features that have collectively become known as Potter's syndrome. Before this there had been some isolated reports of infants with the condition, some even dating back to the 17th century but, until this study, it was thought that the condition was extremely rare. She concentrated on total renal agenesis but since then the name has been extended to any condition where the kidneys fail to develop fully. She subsequently reported 50 additional cases which she had personally observed. She was also involved in the classification of polycystic kidney disease.
Her crucial contribution to medical science was the idea that teratogenic syndromes may affect otherwise unrelated organs or tissues because each is at a susceptible time in their embryonic development when the teratogenic insult strikes.
Further reading & references
- Potter syndrome, MedlinePlus
- Renal agenesis, Perinatal institute; NHS organisation with West Midlands congenital anomaly registery
- Fantel AG, Shepard TH; Potter syndrome. Nonrenal features induced by oligoamnios. Am J Dis Child. 1975 Nov;129(11):1346-7.
- Autosomal Polycystic Kidney Disease, Online Mendelian Inheritance in Man (OMIM)
- Hereditary Renal Adysplasia, Online Mendelian Inheritance in Man (OMIM)
- Polycystic Kidney Disease, Online Mendelian Inheritance in Man (OMIM)
- McPherson E; Renal anomalies in families of individuals with congenital solitary kidney. Genet Med. 2007 May;9(5):298-302.
- Tagliabue G, Tessandori R, Caramaschi F, et al; Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999. Popul Health Metr. 2007 May 25;5:4.
- Garne E, Loane M, Dolk H, et al; Prenatal diagnosis of severe structural congenital malformations in Europe. Ultrasound Obstet Gynecol. 2005 Jan;25(1):6-11.
- Tsatsaris V, Gagnadoux MF, Aubry MC, et al; Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome? BJOG. 2002 Dec;109(12):1388-93.
- Yoshimura S, Masuzaki H, Miura K, et al; Diagnosis of fetal pulmonary hypoplasia by measurement of blood flow velocity waveforms of pulmonary arteries with Doppler ultrasonography. Am J Obstet Gynecol. 1999 Feb;180(2 Pt 1):441-6.
- Gerards FA, Twisk JW, Fetter WP, et al; Predicting pulmonary hypoplasia with 2- or 3-dimensional ultrasonography in complicated pregnancies. Am J Obstet Gynecol. 2008 Jan;198(1):140.e1-6.
- Cannie M, Jani JC, De Keyzer F, et al; Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology. 2006 Dec;241(3):847-53. Epub 2006 Oct 19.
- Guptha S et al; Potter syndrome, eMedicine, Jun 2010
- Biedner B; Potter's syndrome with ocular anomalies. J Pediatr Ophthalmol Strabismus. 1980 May-Jun;17(3):172-4.
- Greenwood RD, Rosenthal A, Nadas AS; Cardiovascular malformations associated with congenital anomalies of the urinary system. Observations in a series of 453 infants and children with urinary system malformations. Clin Pediatr (Phila). 1976 Dec;15(12):1101-4.
- Kadhim HJ, Lammens M, Gosseye S, et al; Brain defects in infants with Potter syndrome (oligohydramnios sequence) Pediatr Pathol. 1993 Jul-Aug;13(4):519-36.
- Kemper MJ, Mueller-Wiefel DE; Prognosis of antenatally diagnosed oligohydramnios of renal origin. Eur J Pediatr. 2007 May;166(5):393-8. Epub 2007 Jan 5.
- Klaassen I, Neuhaus TJ, Mueller-Wiefel DE, et al; Antenatal oligohydramnios of renal origin: long-term outcome. Nephrol Dial Transplant. 2007 Feb;22(2):432-9. Epub 2006 Oct 25.
- Wiesel A, Queisser-Luft A, Clementi M, et al; Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet. 2005 Apr-Jun;48(2):131-44. Epub 2005 Feb 26.
- Schwaderer AL, Bates CM, McHugh KM, et al; Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. Pediatr Nephrol. 2007 Jan;22(1):52-6. Epub 2006 Sep 15.
- Vora N, Perrone R, Bianchi DW; Reproductive issues for adults with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):307-18.
- Dunn PM; Dr Edith Potter (1901 1993) of Chicago: pioneer in perinatal pathology. Arch Dis Child Fetal Neonatal Ed. 2007 Sep;92(5):F419-20.
- Potter EL, Bilateral renal agenesis. J Pediatr 1946; 29: 68–76
|Original Author: Dr Chloe Borton||Current Version: Dr Chloe Borton|
|Last Checked: 26/10/2010||Document ID: 2645 Version: 21||© EMIS|
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.