What Problems are Ciliopathies Associated With?
Discussion
Nephronophthisis (NPHP) one cause of end-stage renal disease (ESRD) usually occurring before age 30 years. NPHP is a non-motile ciliopathy affecting cellular sensing in the renal tubular epithelium. See To Learn More below.
The incidence varies according to location with 1:1 million in the US but 1:50,000 in Finland.
There are 3 subtypes:
Infantile
Occurs usually within 1 year of life
Enlarged kidneys and severe hypertension
In utero can have oligohydramnios problems such as pulmonary hypoplasia, facial dysmorphisms, limb contractures
Extra-renal problems include congenital heart disease, liver fibrosis, recurrent pulmonary infections
Juvenile
Most common
Occurs generally by early adolescence (median age 13 years)
Normal size or small kidneys, impaired concentrating and electrolyte abnormalities, chronic kidney disease, normal blood pressure
Extra-renal problems include brain malformations (cerebellar vermis aplasia), retinal degeneration and gaze problems including ocular motor apraxia, liver fibrosis and skeletal defects
Common presentations include poor growth, polydipsia, polyuria, and chronic iron-resistant anemia
Adolescent
Occurs by later adolescence
Manifestations are similar to juvenile type
Genetically there are many different genes associated with NPHP which are of autosomal recessive inheritance.
Up to 80+% of individuals may have no extra-renal problems.
NPHP is associated with other syndromes include Joubert syndrome, Oculomotor Apraxia (Co...
Source: PediatricEducation.org - Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
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