Medullary cystic disease complex
Updates to Article Attributes
Medullary cystic disease complex belongs to group of paediatric cystic renal diseases charaterised by progressive tubular atrophy with glomerulosclerosis (chronic tubulointerstitial nephritis) and multiple small medullary cysts.
Epidemiology
There is no recognised gender predilection
Clinical presentation
Presentation with polydipsia and polyuria tends to progress to end stage renal failure, growth retardation, lethargy.
Three clinical variants based on age of onset for end stage renal disease - ESRD:
- infantile - before 2 years of age
- juvenile - also called nephronopthisis: most common form, age of onset 10
- adolescent - also called medullary cystic kidney disease, usually develops in the 30s
There can be clinical triad comprising of uraemia, anaemia, salt wasting(hyponatremia, hypokalemia)
Pathology
It comprises a group of related conditions characterised by multiple cysts typically at the corticomedullary junction and medulla. The medullary cysts are small. There can be associated tubular atrophy and interstitial fibrosis.
Variants
- familial nephronophthisis - autosomal recessive (40%)
- sporadic - non familial (20%)
- retinal renal syndrome - autosomal recessive (15%) associated with retinitis pigmentosa
- adult onset medullary cystic disease - autosomal dominant (15%)
Radiographic features
Normal to small kidneys with multiple small (1.5cm>) medullary cysts (sometimes cysts are too small to visualise)
-<a href="/articles/familial-nephronophthisis" title="familial nephronophthisis">familial nephronophthisis</a> - autosomal recessive (40%)</li>-<li>-sporadic - non familial (20%) </li>- +<a href="/articles/familial-nephronophthisis">familial nephronophthisis</a> - autosomal recessive (40%)</li>
- +<li>sporadic - non familial (20%)</li>
-<a href="/articles/retinal-renal-syndrome" title="retinal renal syndrome">retinal renal syndrome</a> - autosomal recessive (15%) associated with <a href="/articles/retinitis-pigmentosa" title="retinitis pigmentosa">retinitis pigmentosa</a>- +<a href="/articles/retinal-renal-syndrome">retinal renal syndrome</a> - autosomal recessive (15%) associated with <a href="/articles/retinitis-pigmentosa">retinitis pigmentosa</a>
-<a href="/articles/adult-onset-medullary-cystic-disease" title="adult onset medullary cystic disease">adult onset medullary cystic disease</a> - autosomal dominant (15%) </li>- +<a href="/articles/adult-onset-medullary-cystic-disease">adult onset medullary cystic disease</a> - autosomal dominant (15%) </li>
Image 1 Ultrasound ( update )
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