Potters Syndrome

What is Potters Syndrome?

Potters syndrome is a typical physical appearance of a fetus or neonate experienced in the uterus due to oligohydramnios. In the medical field it is known as clubbed feet, pulmonary hypoplasia and cranial anomalies.

Other names of potters syndrome: Potters syndrome is also known as potters sequence or Oligohydramnios sequence.

Types

Potters sequence has been divided into five distinct classifications based on its initial characterization.

Type-I

The kidneys of the neonate or fetus will be enlarged and have many small cysts filled with fluid. At this stage kidneys fail to produce an adequate volume of fetal urine. The liver and pancreas of the fetus may show fibrosis or a cystic change. This occurs at a frequency of approximately one in 16,000 infants due to autosomal recessive polycystic kidney disease.

Type-II

This type of sequence is characterized by the complete agenesis or absence of one kidney. The remaining solitary kidney will be small and malformed. This is due to renal agenesis which falls under the category known as hereditary urogenital adysplasia or hereditary renal adysplasia. Renal agenesis is believed to be the most extreme phenotypic variation. It is often referred to as classic potter sequence.

Type-III

Autosomal dominant polycystic kidney disease is due to mutations in the genes. It is considered to be an adult-onset polycytic kidney disease. In rare cases it can also be present in the fetus and neonate. It can be seen with hepatic cysts and an enlarged spleen. An increased prevalence of vascular disease is also observed in these cases.

Type-IV

A longstanding obstruction in either the ureter or kidney leads to hydronephrosis or cystic kidneys. This can be due to environment, or genetics or chance. These types of obstructions occur frequently in fetuses. They rarely tend to fetal demise.

Others

Another cause of potter sequence can be due to the rupturing of the amniotic sacs. Amniotic sacs contain the amniotic fluid of the fetus. This can happen by environment, chance, maternal trauma and in rare cases maternal genetics.(2),(4)

Symptoms:

Before one month of fetal development, the first signs of Potter syndrome are evident in the womb.

• Amniotic fluid
• Abnormalities in the development of the brain
• Limb contractures
• Cardiovascular malformations
  • Defect of Ventricular septal
  • Defect of Endocardial cushion
  • Fallot’s tetralogy
  • Patent ductus arteriosus
  • Associated musculoskeletal malformations
  • Clubbed feet
  • Malformed hands
  • Sacral agenesis
  • Hemivertebrae
• Anuria or oliguria
  • A very weak urine stream associated with posterior urethral valves
  • Cataract
  • Angiomatous malformation in the optic disc area
  • Prolapse of the lens
• Respiratory distress at birth
• Flattened ‘parrot-beaked’ nose
• Absence of urine output
• Breathing difficulty
• Low set, cartilage-deficient ears known as ‘Potters ears’
• receding chin
• epicanthal folds
• Widely separated eyes with broad nasal bridge
• Broad Nasal Bridge

Risk factors

• Infantile polycystic kidney disease
• Posterior urethral valves
• Prolonged rupture of membranes
• BRA

However, babies die either during birth or very shortly after birth mainly because of pulmonary hypoplasia i.e underdevelopment of the lungs.

Causes

The primary cause for potters syndrome is kidney failure. Normally, kidneys produce the amniotic fluid as urine. As the baby grows in the womb, kidneys fail to develop. Lack of amniotic fluid is called oligohydramnios. A sequence of events causes the features of Potter syndrome.

• obstructive uropathy
• autosomal recessive polycystic kidney disease
• renal tubular dysgenesis
• bilateral renal dysplasia
• caudal dysgenesis
• vertebral anomalies
• anal atresia
• cardiac defects
• tracheoesophageal fistula
• Renal defects
• limb defects
• isolated anomalies of the cardiovascular, skeletal, and central nervous systems
• No racial predilection is known
• Males have an increased incidence
• Males have a higher rate of obstructive uropathy secondary to posterior urethral valves

How to diagnose Potters syndrome?

The aid of Colour Doppler identifies the lack of renal artery signal. The urinary bladder can be identified by the observation of the umbilical arteries. The adrenal gland assumes an ovoid, elongated or discoid shape seen as reniform structure on transverse and parasagittal scans in the renal fossae.^(1),(7)

Ultrasound examination by Fetal autopsy shows invisible kidneys and bladder

Radiological findings shows opaque lung fields, absence of right fibula, absence of sacrum(expect first sacral vertebra),hypoplasia of right tibia with bowing.

Typical potter faces was noted on autopsy

A B C

A——flattened nose and recessed chin

B——-bilateral epicanthal folds

C——-low-set ears with wide pinna

The following tests may be used to diagnose a newborn

• Abdomen X-ray
• Lungs X-ray⁽⁵⁾
• Glomerular filtration rate should be checked. Imaging the urinary track Ultrasound is the best technique. If there is suspicion of cardiac anomaly Echocardiography may be indicated. Genetic analysis or Chromosomal can be done. Post-mortem is recommended when the child dies.

Treatment

Potters syndrome is always fatal due to the underdevelopment of baby lungs. There is no known treatment for potter syndrome. It occurs twice in males when compared with females. In cases where kidneys are present but are severely malformed or produced enough urine during pregnancy. Sufficient amniotic fluid supplied to the lungs to develop the baby to survive and the kidney function can be supported with dialysis which is technically challenging.⁽³⁾

Prognosis

The prognosis is poor with a very high mortality rate. 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. Potters syndrome affects around one in 30,000 babies. Most babies with the syndrome are stillborn.⁽⁶⁾

Pictures

References:

1. Bronsntein M, Amit A, Achiron R, Noy I, Blumenfeld Z. The early prenatal sonographic diagnosis of renal agenesis; techniques and possible pitfalls, prenet Diagn. 1994 April; 14 (4) : 291-7
2. Copelovitch L, Kaplan BS. Developmental abnormalities of the kidneys. In: Gleason CA, Devaskar SU eds. Avery’s diseases of the newborn. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 83.
3. Curry CJ, Jensen K, Holland J, Miller L, Hall BD. The Potter sequence: A clinical analysis of 80 cases. Am J Med Genet. 1984;19:679–702.
4. Elder JS. Congenital anomalies and dysgenesis of the kidneys. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 537.
5. Harusler MC, Ryan G, Ronson SC, Lipitz S, Rodeck CH. The use of saline solution as a contrast medium in suspected diaphragmatic hernia and renal agenesis. Am J. Obstet Gynaecol 1993 May; 168 (5) : 1486-92
6. Jain M, Agarwal S, Mandal S. Variation in clinical and genitourinary lesions associated with pulmonary hypoplasia in Potter’s syndrome-two autopsy reports. Indian J Pathol Microbiol. 2006;49:416–8.
7. Sepulveda W, Stagiannis KD, Flack NJ, Fisk NM Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second trimester oligohydramnios. Am J Obstet Gynecol 1995 Dec; 173(6) : 1788-92.