Clinical findings in the kidney # Hypoplastic kidneys: Characterized by hypoplasia or hyperechogenicity. This typically occurs bilaterally, but there are also exceptions in which one kidney may be notably smaller while the other kidney is normal sized. # Hypodysplasia (RHD): Characterized histologically by reduced number of nephrons, smaller kidney size, or disorganized tissue. # Multicystic Dysplastic Kidney: Characterized histologically, displaying cysts or dysplasia. Shows disorganization of kidneys, and occurs in about 10% of patients with<unk> . # Oligomeganephronia: Fewer than normal glomeruli, with a notable size increase. # Chronic kidney disease and end-stage kidney disease (ESKD) # Vesicoureteral reflux Clinical findings in the eye Dysplasia of the optic nerve (most common) The severity varies, but the most severe form results in an enlarged disc where vessels exit from the periphery instead of the center. Redundant fibroglial tissue also is seen in severe cases. Milder forms of dysplasia exhibit missing portions of the optic disc located in the optic nerve pit. The least severe form of<unk>  disease shown in the eye is the exiting of blood vessels from the periphery that do not disturb the shape of the eye. Other eye malformations include scleral staphyloma, which is the bulging of the eye wall. There can also be retinal thinning and myopia. Additionally, there can be an optic nerve cyst, which is dilation of the optic nerve posterior to the globe; which most likely results from incomplete regression of the primordial optic stalk and the filling of this area with fluid. Retinal coloboma is also common, which is characterized by the absence of retinal tissue in the nasal ventral portion of the retina. However, this is an extremely rare finding. Molecular genetic testing Sequence analysis shows that Pax2 is the only known gene associated with the disease. Mutations in Pax2 have been identified in half of renal coloboma syndrome victims.
Papillorenal syndrome
Conorenal syndrome
Cardiorenal syndrome
Hepatorenal syndrome
Nephritic syndrome
Tumor lysis syndrome
Culture-bound syndrome
Dialysis disequilibrium syndrome