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Potter Syndrome Workup

  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD  more...
Updated: Jan 21, 2015

Laboratory Studies

See the list below:

  • In patients with suspected Potter syndrome, obtain serum electrolyte tests to evaluate for hyponatremia, hypernatremia, hyperkalemia, hypocalcemia, hyperphosphatemia, and/or metabolic acidosis, which may be present in neonates with renal failure.
  • Serum creatinine levels are used to assess renal function and the glomerular filtration rate (GFR). The GFR can be calculated by using various formulas, such as that reported by Schwartz and colleagues, as follows:
    • In low birth weight (LBW) neonates, the formula is (0.33 X height in cm)/serum creatinine level.
    • In term infants, the formula is (0.45 X height in cm)/serum creatinine level.
    • The serum blood urea nitrogen result is not a good indicator of renal function.
  • Obtain a CBC count with differential to evaluate for anemia secondary to erythropoietin deficiency.
  • Urinalysis is used to reveal either microhematuria or proteinuria.
  • If sepsis is suspected, obtain cultures of the urine, blood, and cerebrospinal fluid.
  • Chromosomal analysis is obtained if the physical examination findings suggest the presence of an associated genetic disorder, such as trisomy 7 or trisomy 13 (Patau syndrome).
  • Other tests, such as evaluations of the urine sodium level, urine creatinine level, urine osmolality, and serum osmolality, are indicated if the neonate has renal failure.

Imaging Studies

See the list below:

  • Prenatal imaging studies
    • Abdominal and transvaginal ultrasonography are effectively used in pregnant mothers with oligohydramnios.
      • Fetal kidneys and adrenal glands are visualized on ultrasound between 12 and 15 weeks' gestations. The differentiation between medulla and cortex of the kidney is appreciated at 20-25 weeks' gestation. The absence of the bladder and kidneys in the fetus implies bilateral renal agenesis.
      • Of fetuses with an empty renal fossa, 47% have been found to have an ectopic kidney[13] . There is a case report of congenital intrathoracic kidney[26] .
      • Prenatal ultrasonographic findings may suggest the presence of other conditions, such as multicystic dysplastic kidney, polycystic renal disease, and obstructive uropathy[45] . In the literature there are potter-classifications, depending on the sonographic appearance of the kidney parenchyma[46] .
    • Doppler ultrasonography
      • Presence of fetal renal arteries helps to distinguish the severe renal hypoplasia from renal agenesis.
      • Doppler ultrasonography can be helpful in depicting fetal pulmonary hypoplasia by revealing poor angiogenesis in the lung and enabling the measurement of the blood-flow velocity waveform of the pulmonary artery[47] .
    • Antenatal MRI has also been used to define the complete renal malformation.[48]
    • Amnioinfusion
      • In case of very low amniotic fluid, amnioinfusion can be helpful to visualize fetus in better way and hence make an accurate Diagnosis.[49]
  • Neonatal imaging studies
    • Abdominal ultrasonography is used to confirm the renal abnormalities detected in the prenatal period.
    • Sonograms also provide useful information related to the bladder and ureters, and they are useful in depicting obstructive uropathy.
    • Chest radiography is used to reveal spontaneous pneumothorax and pulmonary hypoplasia, which has a known association with the Potter syndrome.
    • Other examinations that may be indicated include voiding cystourethrography and nuclear renal scanning.

Other Tests

In neonates who die from this condition, an autopsy is recommended.



See the list below:

  • Chest tube placement may be required in neonates with spontaneous pneumothorax.
  • A peritoneal dialysis line or a central venous catheter may be placed in children who have renal failure and require dialysis.
Contributor Information and Disclosures

Sushil Gupta, MD Assistant Professor of Pediatric Nephrology, University of Louisville School of Medicine

Sushil Gupta, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, American Society of Pediatric Nephrology, Indian Medical Association

Disclosure: Nothing to disclose.


Carlos E Araya, MD, FAAP Assistant Professor of Pediatrics, University of Central Florida College of Medicine; Faculty, Florida Hospital; Faculty, Nemours Children's Hospital

Carlos E Araya, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Laurence Finberg, MD Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

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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.
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