An infant with hyperechoic cystic kidneys and congenital diaphragmatic hernia: Answers

Excerpt

The differential diagnosis for hyperechoic cystic kidneys in neonates is broad but may be narrowed by consideration of the pattern of cysts and the size of the kidneys. Large and diffusely hyperechoic kidneys may be the result of recessive or dominant polycystic kidney disease, acquired or hereditary glomerulocystic kidney disease, or diffuse kidney dysplasia [1, 2]. Small hyperechoic kidneys with abnormal architecture are often associated with cystic kidney dysplasia. Normal-size or small hyperechoic kidneys with cysts found in the cortex, at the corticomedullary junction, and in the medulla may be the result of a mutation in the gene that encodes hepatocyte nuclear factor-1-beta (HNF-1-beta), a protein that is involved in the regulation of embryonic development and the growth of several tissues, including the kidneys, liver, intestines, and pancreas [3]. Hyperechoic kidneys of variable size, most often with cysts at the corticomedullary junction, may be the result of infantile nephronophthisis, an autosomal recessive cystic kidney disorder that generally progresses to kidney failure [4]. Family history, including screening kidney ultrasounds of parents and siblings, and the identification of non-kidney abnormalities are essential clues in the evaluation of a neonate. In addition, kidney biopsy may be required. …