eMedicine Specialties > Pediatrics: General Medicine > Nephrology
Potter Syndrome
Updated: May 4, 2009
Introduction
Background
Potter syndrome, which causes a typical physical appearance, is the result of oligohydramnios secondary to renal diseases such as bilateral renal agenesis. Other causes of Potter syndrome include obstructive uropathy, autosomal recessive polycystic kidney disease, and renal hypoplasia. The causes of Potter syndrome, other than renal agenesis, result in less severe forms of deformation that are usually referred to as the Potter sequence.
Sonogram obtained before second-trimester amnioinfusion. This fetus has bilaterally absent kidneys consistent with a diagnosis of Potter syndrome. The cystic structures in the renal fossae are most likely the adrenal glands.
Pathophysiology
The fetus continuously swallows amniotic fluid, which is reabsorbed by the GI tract and then reintroduced into the amniotic cavity by the kidneys. Oligohydramnios occurs if the volume of amniotic fluid is less than normal for the corresponding period of gestation. This may be due to decreased urine production secondary to bilateral renal agenesis, obstruction of the urinary tract, or, occasionally, prolonged rupture of membranes. The resulting oligohydramnios is the cause of the deformities observed in Potter syndrome.
Genetics
During nephrogenesis, genes, transcription factors, and growth factors control the essential interaction between the ureteric bud and the metanephric mesenchyme. For example, the L1M1 and PAX2 transcription factors are essential for the formation of the mesonephric duct, from which the ureteric bud develops. L1M1 -deficient mice have complete renal agenesis. If the PAX2 gene is deficient, deletion of the caudal portion of the mesonephric duct and, therefore, renal agenesis, results. WT-1, a zinc-finger transcription factor expressed in the metanephric mesenchyme, is essential for ureteric bud outgrowth.
Homozygous null-mutants for WT-1 have complete renal agenesis. Similarly, transcription factor Eya-1 from the metanephric mesenchyme is required for ureteric bud outgrowth, and deficiency of this protein is shown to cause branchiootorenal syndrome. The glial cell line–derived neurotrophic factor (GDNF) from the metanephric mesenchyme binds to the C-ret receptor on the branching ureteric bud and is responsible for the branching and elongation of the ureteric bud. Inactivation of either GDNF or the C-ret receptor leads to renal agenesis. Heterozygotes may have unilateral renal abnormality while the other kidney has normal development. Limb deformity (ld) gene codes for 4 different spliced formin genes, which are expressed in the mesonephric duct and branching ureteric ducts. Mutation of the ld gene leads to limb deformity with renal agenesis. Mutation of the formin IV gene leads only to kidney abnormality.
Homozygous mutation of the alpha-8 integrin subunit produces abnormalities with phenotypes similar to ld mutation with deformities such as renal aplasia, dysplasia, or hypoplasia. Transcription factors such as EMX-2, BF-2, fibroblast growth factor 7 (FGF 7), epithelial growth factor receptor (EGF-R), GDNF, retinoic acid receptor alpha, and beta 2 are involved in the branching of the ureteric bud. A heterozygous mutation defect of the growth factor bone morphogenetic protein 4 (bmp 4) leads to genitourinary abnormalities, such as hypoplasia or dysplasia, ureterovesicular junction obstruction, hydronephrosis, or the bifid/duplex kidney. This is a defect of ureteric branching and not induction of the ureteric bud; thus, renal aplasia does not occur.
Various human abnormalities are associated with renal agenesis or dysplastic kidney abnormalities, such as renal coloboma syndrome, Kallmann syndrome, and branchiootorenal syndrome.1,2
Frequency
United States
Bilateral renal agenesis occurs in 1 per 3000 births and is responsible for 20% of Potter syndrome cases. The frequency of other causes of Potter sequence is not known.
Mortality/Morbidity
Potter syndrome is usually fatal in the first few days of the patient's life; most often, the cause is pulmonary failure. Neonates with the Potter sequence have an increased morbidity rate because of respiratory failure, pneumothorax, and acute renal failure during the neonatal period. During early childhood, patients may have chronic lung disease or chronic renal failure.Race
No racial predilection is known.
Sex
Males have an increased incidence of the Potter sequence because they have a higher rate of Eagle-Barrett (prune belly) syndrome3 and obstructive uropathy secondary to posterior urethral valves.
Age
Patients present as neonates.
Clinical
History
Features of the history in Potter syndrome may include the following:
- Antepartum period (Findings of either of the historical factors below requires close follow-up of the neonate during the prenatal and neonatal periods).
- History of oligohydramnios
- History of prenatal ultrasonography that reveals renal agenesis or evidence of hydronephrosis (obstructive uropathy) or other renal disorders
- Neonatal period
- Absence or paucity of urine output during the neonate's initial 48 hours life
- Respiratory distress
- Lack of proper force in the urinary stream in neonates with posterior urethral valves
Physical
Findings at physical examination may include the following:
- Potter facies: Affected infants have a flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears.
- Pulmonary hypoplasia: The degree of pulmonary hypoplasia depends on the degree and duration of oligohydramnios, as well as the stage of lung development at which oligohydramnios occurs.
- Features of Eagle-Barrett (prune belly) syndrome: This is an occasional cause of the Potter sequence. Neonates have a deficient abdominal wall, undescended testes, dilated ureters, and a renal pelvis.
- Skeletal malformations: Hemivertebrae, sacral agenesis, and limb anomalies may be present.
- Ophthalmologic malformations: Cataract, angiomatous malformation in the optic disc area, prolapse of the lens, and expulsive hemorrhage may be present.
- Cardiovascular malformations: Ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus may be present.
Causes
Causes of Potter syndrome may include the following:
- Bilateral renal agenesis
- Infantile polycystic kidney disease
- Cystic kidney disease
- Posterior urethral valves
- Early rupture of membranes
More on Potter Syndrome |
 Overview: Potter Syndrome |
| Differential Diagnoses & Workup: Potter Syndrome |
| Treatment & Medication: Potter Syndrome |
| Follow-up: Potter Syndrome |
| Multimedia: Potter Syndrome |
| References |
| Further Reading |
| Next Page » |
References
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Abbag FI. Bilateral multicystic renal dysplasia with Potter sequence. Saudi Med J. Jul 2007;28(7):1150; author reply 1150. [Medline].
Woods AG, Brandon DH. Prune belly syndrome. A focused physical assessment. Adv Neonatal Care. Jun 2007;7(3):132-43; quiz 144-5. [Medline].
Raboei EH. The role of the pediatric surgeon in the perinatal multidisciplinary team. Eur J Pediatr Surg. Oct 2008;18(5):313-7. [Medline].
Barratt TM. Pediatric Nephrology. 4th ed. 1999.
Behrman R. Nelson's Textbook of Pediatrics. 16th ed. 2000.
Chernick V, Boat TF, eds. Kendig's Disorders of the Respiratory Tract in Children. 6th ed. 1998.
Dicker D, Samuel N, Feldberg D, Goldman JA. The antenatal diagnosis of Potter syndrome (Potter sequence). A lethal and not-so-rare malformation. Eur J Obstet Gynecol Reprod Biol. Sep 1984;18(1-2):17-24. [Medline].
Fantel AG, Shepard TH. Potter syndrome. Nonrenal features induced by oligoamnios. Am J Dis Child. Nov 1975;129(11):1346-7. [Medline].
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Ginsberg J, Buchino JJ, Menefee M, et al. Multiple congenital ocular anomalies with bilateral agenesis of the urinary tract. Ann Ophthalmol. Jul 1979;11(7):1021-9. [Medline].
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). Dec 1976;15(12):1101-4. [Medline].
Insunza A, Gonzalez F, Guzman E, et al. [Potter syndrome caused by bilateral renal agenesis and duodenal atresia]. Rev Chil Obstet Ginecol. 1993;58(6):477-80. [Medline].
Kadhim HJ, Lammens M, Gosseye S, et al. Brain defects in infants with Potter syndrome (oligohydramnios sequence). Pediatr Pathol. Jul-Aug 1993;13(4):519-36. [Medline].
Kovacs T, Csecsei K, Toth Z, Papp Z. Familial occurrence of bilateral renal agenesis. Acta Paediatr Hung. 1991;31(1):13-21. [Medline].
Pramanik AK, Altshuler G, Light IJ, Sutherland JM. Prune-belly syndrome associated with Potter (renal nonfunction) syndrome. Am J Dis Child. Jun 1977;131(6):672-4. [Medline].
Preus M, Kaplan P, Kirkham TH. Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome. Am J Dis Child. Jan 1977;131(1):62-4. [Medline].
Prouty LA, Myers TL. Oligohydramnios sequence (Potter's syndrome): case clustering in northeastern Tennessee. South Med J. May 1987;80(5):585-92. [Medline].
Rachdi R, Kaabi M, M'Hamdi H, et al. [Potter's reno-facial syndrome]. Tunis Med. Jul 2004;82(7):690-7. [Medline].
Schmidt W, Kubli F. Early diagnosis of severe congenital malformations by ultrasonography. J Perinat Med. 1982;10(5):233-41. [Medline].
Strauss A, Hasbargen U, Paek B, et al. [Prenatal diagnosis of kidney parenchyma diseases]. Z Geburtshilfe Neonatol. Mar-Apr 2001;205(2):71-5. [Medline].
Vanderheyden T, Kumar S, Fisk NM, et al. Fetal renal impairment. Semin Neonatol. Aug 2003;8(4):279-89. [Medline].
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. Apr-Jun 2005;48(2):131-44. [Medline].
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. Feb 1999;180(2 Pt 1):441-6. [Medline].
Further Reading
- Relevant clinical guidelines include the following:
- Am bulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction is a relevant clinical trial.
- Related eMedicine topics include the following:
Keywords
Potter syndrome, Potter's syndrome, Potter disease, Potter's disease, Potter facies, Potter's facies, Potter sequence, oligohydramnios, obstructive uropathy, autosomal recessive polycystic kidney disease, renal hypoplasia, renal coloboma syndrome, Kallmann syndrome, branchiootorenal syndrome, bilateral renal agenesis, pulmonary failure, respiratory failure, pneumothorax, acute renal failure, chronic lung disease, chronic renal failure, prune belly syndrome, hydronephrosis, pulmonary hypoplasia, Eagle-Barrett syndrome, ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, patent ductus arteriosus, treatment, diagnosis
