Potter Syndrome Workup

  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD   more...
 
Updated: Jun 30, 2010
 

Laboratory Studies

  • 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.
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Imaging Studies

  • 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]
      • Prenatal ultrasonographic findings may suggest the presence of other conditions, such as multicystic dysplastic kidney, polycystic renal disease, and obstructive uropathy.
    • 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.
    • Antenatal MRI has also been used to define the complete renal malformation.[14]
  • 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.
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Other Tests

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

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Procedures

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

Sushil Gupta, MD  Fellow, Department of Pediatric Nephrology, University Of Florida College of Medicine

Sushil Gupta, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, Indian Medical Association, and National Kidney Foundation

Disclosure: Nothing to disclose.

Coauthor(s)

Carlos E Araya, MD  Clinical Assistant Professor, Division of Pediatric Nephrology, University of Florida College of Medicine; Medical Director, Pediatric Dialysis Unit, Shands Children's Hospital

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

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

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

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 Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Eastern Society for Pediatric Research, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Renal Physicians Association, Sigma Xi, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Howard Trachtman, MD  Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine

Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

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

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

Disclosure: Amgen Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

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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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