Potter Syndrome Workup

Updated: Nov 25, 2020
  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD  more...
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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.


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]  There is a case report of congenital intrathoracic kidney. [27]

Prenatal ultrasonographic findings may suggest the presence of other conditions, such as multicystic dysplastic kidney, polycystic renal disease, and obstructive uropathy. [46]  In the literature there are potter-classifications, depending on the sonographic appearance of the kidney parenchyma. [47]

On Doppler ultrasonography, the presence of fetal renal arteries helps to distinguish the severe renal hypoplasia from renal agenesis. Doppler ultrasonography can also 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. [48]

Antenatal MRI has also been used to define the complete renal malformation. [49]

In case of very low amniotic fluid, amnioinfusion can be helpful to visualize fetus in better way and hence make an accurate diagnosis. [50]

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 and Procedures

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.

In neonates who die of Potter syndrome, an autopsy is recommended.