Multicystic Dysplastic Kidney

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

HNF1B, PAX2, LHX1, TBX18, IFT172, BBS7, SETD5, CEP55, MKS1, LZTFL1, MBTPS2, TMEM216, WDPCP, BBS9, B9D1, NPHP3, NIPBL, MCTP2, LMOD1, KIF4A, PIGN, KAT6B, GRIP1, RPGRIP1L, TRIM32, IFT27, SDCCAG8, CD96, HDAC4, CEP57, PEX16, PEX26, HDAC8, BUB3, ARL6, RSPO2, KANSL1, BBS12, C8orf37, ARL6IP6, SIX5, B3GLCT, BBS5, TTC8, BBIP1, TMEM67, TMEM107, B9D2, INPP5E, CEP290, FRAS1, GREB1L, TCTN2, CSPP1, BBS10, TMEM231, PORCN, NXN, PIEZO2, CC2D2A, RPGRIP1, TRIP13, FREM2, SMC3, PEX12, PEX6, ACTG2, ROR2, NPHP1, MYLK, MYH11, KMT2A, HOXD13, HNF4A, GPC3, GATA3, FLI1, GPC4, EYA1, DHCR7, CPT2, CHRM3, BUB1B, BUB1, BBS4, BBS2, BBS1, ARL3, PEX10, PEX1, PEX13, SNRPB, PEX11B, PEX3, OFD1, SMC1A, MKKS, FZD3, WNT3, VHL, PEX14, TFAP2A, SIX1, RAD21, SALL1, PKD1, PKD2, PEX19, PEX2, PEX5, AGTR2, BCL2, CDC5L, TAZ, MIP, REN, CYP4A11, ACE, USF2, HNF1A, ACTB

Drugs

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A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.