What is the most likely diagnosis for a newborn with bilateral flank masses, impaired renal function, and ultrasonography showing bilateral kidney enlargement with mixed echogenicity, given a hematocrit of 50%, normal urea nitrogen (8 milligrams per deciliter (mg/dL)), and normal creatinine (0.9 mg/dL) levels?

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Differential Diagnosis for Bilateral Flank Masses in a Newborn

  • Single most likely diagnosis
    • Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is characterized by bilateral enlargement of the kidneys with mixed echogenicity on ultrasonography, which matches the provided imaging findings. The presence of bilateral flank masses, along with the laboratory results showing a low specific gravity of urine (indicating impaired renal concentrating ability), supports this diagnosis. ARPKD often presents in the neonatal period with palpable abdominal masses due to enlarged kidneys.
  • Other Likely diagnoses
    • Multicystic Dysplastic Kidneys (MCDK): This condition could also present with bilateral flank masses and abnormal ultrasonography findings, showing multiple cysts of varying sizes within the kidneys. However, the mixed echogenicity described might be less typical for MCDK, which usually shows a more characteristic pattern of multiple non-communicating cysts.
    • Congenital Mesoblastic Nephroma: Although less common, this renal tumor could present as a palpable abdominal mass in the neonatal period. Ultrasonography findings might show a solid mass, but the mixed echogenicity could potentially be seen in some cases.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Renal Vein Thrombosis: This condition is a medical emergency that can present with acute kidney injury and a palpable abdominal mass. Although the laboratory findings do not strongly suggest acute kidney injury (given the normal creatinine and urea nitrogen levels), renal vein thrombosis can have variable presentations and should be considered, especially if there are any signs of renal impairment or if the clinical condition worsens.
  • Rare diagnoses
    • Nephroblastoma (Wilms Tumor): While Wilms tumor is a well-known cause of abdominal masses in children, it is exceedingly rare in the neonatal period, making it a less likely diagnosis in this case.
    • Neuroblastoma: This tumor can present with abdominal masses, but it typically arises from the adrenal glands or sympathetic nervous system, not primarily from the kidneys. The mixed echogenicity and bilateral kidney enlargement are not typical for neuroblastoma.
    • Renal Cell Carcinoma: This is an extremely rare diagnosis in newborns, as it is more commonly associated with adults or older children with specific genetic syndromes.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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