8 year female presented with history polyurea , polydipsia ,
Pallor , lethargy and groth
Retardation. There is strong history of ESRD in family. In young
age. There is no history of
Nephrolithisis , hematuria in familly.Ulsasound revealed
small kidneys with multiple medullary
Cysts. What is the most likelly diagnosis with explannation?
Answere:
The most likely diagnosis
is Jevenile nephronophthsis. This and medullary cystic disease are famillial
Disorder with different modes of inherittance. But both
present with progressive renal failure and
Multiple renal cysts in medullary and corticle. Juvenile
nephronophsis is autosommal recessive which
Involve chromosome 2. Mostly present before 20 year, while
cystic medullary kidney disease presents
After 20 years. Extra renal manifestation are mental
retardation, c erebral ataxia, occular abnormailties
Like amblypia, cataract, tetinitis pigmentosa.
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