“Juvenile Nephronophthisis”  

  In our body, the ciliopathic dis-order, Juvenile Nephronophthisis is a nephronophthisis indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge.
  In our young body, Juvenile Nephronophthisis is the most common genetic cause of end-stage renal failure during childhood and adolescence. *

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“Nephronophthisis (NPH)”  

Nephronophthisis

  In our body's kidney, the ciliopathic dis-order, Nephronophthisis (NPH), a genetically heterogeneous renal cystic dis-ease with an autosomal recessive mode of transmission is the most frequent genetic cause of chronic renal failure in children and young adults, associated with a kidney health challenges including glomerulocystic renal dysplasia.
  In our body, Nephronophthisis can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), and liver fibrosis.
  Examples of some related nephronophthisis dis-orders include:

• When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome
• When nephronophthisis is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome
• When nephronophthisis is combined with multiple developmental and neurologic abnormalities, the disorder is often known as dysencephalia splachnocystica (Meckel-Gruber syndrome)
• adult familial nephronophthisis spastic quadriparesis

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