Renal cystic disease in infants and children

Abstract

Renal cystic disease is a common abnormality of the kidney in the pediatric age group. Cystic disease may occur as a sporadic dysplasia or, somewhat more commonly, represent a genetic disorder. Establishment of an accurate diagnosis, prognosis, and treatment requires a broad approach to the problem, including radiologic imaging, renal function testing, and occasionally surgical biopsy. Interpretation of the imaging studies requires understanding of the patterns of renal cystic disease in the pediatric age group.

Tuberous sclerosis presenting as bilateral flank masses in an infant

“…Bilateral multicystic dysplasia is a lethal malformation and is associated with the intrauterine consequences of diminished urinary output and oligohydramnios, characterized by clinical Potter's syndrome. 1 Abnormalities of the brain may be seen as early as the newborn period in patients with tuberous sclerosis. Findings include cortical tubers (cortical hamartomas), white matter abnormalities (thought to represent disorganized dysplastic white matter or dysmyelinated foci), subependymal nodules (subependymal hamartomas), and subependymal giant cell tumors.…”

“…In addition there are several multi-organ syndromes including tuberous sclerosis, von Hippel-Lindau disease, Meckel-Gruber syndrome, and Zellweger syndrome which can present with bilateral renal cysts. 1 We will discuss a rare case of an infant with tuberous sclerosis presenting with massively enlarged cystic kidneys.…”

Unilateral renal cystic disease in an adult

“…Imaging studies usually show marked renal enlargement and either diffuse or partial replacement of the entire kidney with cysts [1][2][3][4]. Unilateral cystic change of the kidney has been reported in children as an unusual presenting manifestation of ADPKD [5][6][7][8][9][10][11][12][13][14][15] and has recently been reported to occur in autosomal recessive polycystic kidney disease [16]. The distribution of renal cysts in ADPKD has been found to be asymmetric, particularly in children [5].…”

Paediatric ultrasound. I. Abdominal

“…The few important entities are the congenital multicystic dysplasia, polycystic kidney disease, and simple or complicated renal cyst. They usually do not pose a sonographic problem [82,83,84,85,86]. Only the neonatal recessive polycystic kidney disease may be confusing, as usually no cysts are seen initially.…”