Polycystic kidneys, severe infantile with tuberous sclerosis
Other Names: PKDTS; Tuberous sclerosis polycystic kidney disease contiguous gene syndrome
Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
Epidemiology[edit | edit source]
So far, just over 30 cases have been reported in the literature.
Cause[edit | edit source]
PKD-TSC is a contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3).
Inheritance[edit | edit source]
Transmission is autosomal dominant.
NIH genetic and rare disease info[edit source]
Polycystic kidneys, severe infantile with tuberous sclerosis is a rare disease.
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