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Minerva Urologica e Nefrologica 2004 December;56(4):329-38


language: English

Autosomal recessive and dominant polycystic kidney diseases

Sessa A., Righetti M., Battini G.

Nephrology and Dialysis Unit District Hospital, Vimercate (Milan), Italy


It is pos­sible to iden­ti­fy re­nal ­cysts in sev­er­al sub­jects by ultra­so­nog­ra­phy im­ag­ing tech­niques. Among the in­her­it­ed poly­cys­tic kid­ney dis­eas­es we in­clude au­to­so­mal re­ces­sive poly­cys­tic kid­ney dis­ease (­ARPKD) and au­to­so­mal dom­i­nant poly­cys­tic dis­eas­es ­such as von Hippel-Lindau dis­ease, tu­ber­ous scler­o­sis com­plex (TSC1 and TSC2), and au­to­so­mal dom­i­nant poly­cys­tic kid­ney dis­ease (­ADPKD). ­ARPKD is a ­rare dis­ease, re­lat­ed to ­PKHD1 ­gene, lo­cat­ed on chro­mo­some 6p21, ­that en­codes a pro­tein ­named poly­duc­tin/fi­bro­cys­tin. Pathoanatomi-cal fea­tures are bi­lat­er­al kid­ney in­volve­ment ­with mul­ti­ple mi­cro­cysts, and in­var­i­ably liv­er in­volve­ment ­with por­tal and inter­lob­u­lar fi­bro­sis. A sin­gle ge­net­ic de­fect ­leads to dif­fer­ent de­grees of re­nal and he­pat­ic in­volve­ment ­with ­very dif­fer­ent phe­no­types and dif­fer­ent clin­i­cal out­come, in the ­same fam­i­ly too. ­ARPKD clin­i­cal­ly may ­show 4 dif­fer­ent ­forms: per­i­na­tal, neo­na­tal, in­fan­tile, and juve­nile. ­ADPKD is ­much ­more fre­quent (1: 400-1000 ­live ­births), and can ­arise ­from mu­ta­tions in 2 dif­fer­ent ­genes, ­named PKD1 lo­cat­ed on chro­mo­some 16p13.3, and PKD2 lo­cat­ed on chro­mo­some 4q21-23. The pro­teins en­cod­ed by the PKD1 and PKD2 ­genes are ­named poly­cys­tins ­which ­play cru­cial ­roles in sev­er­al bi­o­log­ic pro­cess­es. To ex­plain the fo­cal le­sions ­that af­fect­ed dif­fer­ent or­gans and tis­sues the “dou­ble hit” the­o­ry has ­been pro­posed (ger­mi­nal mu­ta­tion ­plus so­mat­ic mu­ta­tion on PKD1 or PKD2). Recently, bi­o­log­ic ev­i­dence doc­u­ment­ed the cru­cial ­role of the re­nal pri­mary cil­ia on the for­ma­tion of poly­cys­tins to in­duce cys­to­gen­e­sis. ­ADPKD may be clin­i­cal­ly char­ac­ter­ized by ab­dom­i­nal ­pain, hy­per­ten­sion, epi­sodes of ­gross hem­a­tu­ria, head­ache, re­nal ­stones, aor­tic and ce­re­bral an­eu­rysms, mi­tral ­valve pro­lapse, and poly­cys­tic liv­er dis­ease. ­ADPKD is slow­ly pro­gres­sive dis­ease re­spon­sible for up 10% of end ­stage re­nal fail­ure (­ESRF) in eve­ry coun­try of the ­world. Male sex, PKD1 ­gene, epi­sodes of ­gross hem­a­tu­ria, and the pre­co­city and se­ver­ity of hy­per­ten­sion ­play an im­por­tant ­role in the pro­gres­sion of re­nal dis­ease to ­ESRF.

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