Polycystic kidney disease is?
Description: Feature ADPKD ARPKD 1.Inheritance Autosomal dominant Autosomal recessive 2.Cytogenetic defect Chromosome 16 (85%): ADPKD-1 Chromosome 4 (15%): ADPKD-2 Chromosome 6 3.Mutations PKD 1 gene (85%) PKD 2 gene (15%) 6p21 PKHD1 4.Age at presentation Adults (3rd to 5th decades) Infancy, perinatal 5.G/A Macrocysts Cysts derived from all pas of the nephron(glomeruli, tubules) Micro- and macrocysts radiating from the medulla to OUTER COEX 6.Other manifestations Intracranial aneurysms, cysts of other organs None Ref: HARSH MOHAN TEXTBOOK OF PATHOLOGY 6th ed. pg no: 659
Autosomal dominant
Autosomal recessive
X-linked
Multifactorial
Urinary tract