TABLE 2.

Genes commonly implicated with renal cystic disease

Disorder	Gene(s)	Inheritance	Prenatal Presentation	Postnatal Presentation
Autosomal dominant polycystic kidney disease (ADPKD)	PKD1, PKD2	Autosomal dominant	Bilateral cystic kidneys (rare)	Hypertension, progressive renal failure (adult onset)
Autosomal recessive polycystic kidney disease (ARPKD)	PHKD1	Autosomal recessive	Bilateral cystic kidneys	Hypertension, biliary duct dilation (neonatal –childhood onset)
ARPKD-like phenotype	HNF1B, DZIP1L	Autosomal recessive, sporadic	Bilateral cystic kidneys	Hypertension, biliary duct dilation (neonatal findings)
Meckel-Gruber syndrome (MKS)	MKS1, TMEM216, TMEM67, RPGRIP1L, CEP290, CC2D2A	Autosomal recessive	Multicystic kidneys, occipital encephalocele, polydactyly, possible oligohydramnios	Pulmonary hypoplasia if oligohydramnios; hepatic fibrosis, high postnatal mortality
Bardet-Biedl syndrome	BBS1→ 12, MSK1, TMEM67, CEP290	Autosomal recessive	Large, hyperechogenic kidneys, polydactyly, possible genital anomalies	Retinal abnormalities, obesity, infertility, short stature, anosmia, and renal dysplasia
Joubert syndrome	NHPH1, INPP5E, ARL13B, AHI1, CXORF5 (+ all listed MKS genes)	Autosomal recessive	“Molar tooth sign” (hypoplasia of cerebellar vermis)b	Hypotonia, ataxia, intellectual disability, renal dysplasia
Jeune syndrome (Jeune asphyxiating thoracic dystrophy)	IFT80, DYNC2H1, WDR35, WDR19 (IFT144)	Autosomal recessive	Small, bell shaped chest, short long bones, polydactylya	Renal dysplasia leading to renal failure, biliary cirrhosis
Senior-Løken syndrome	NPH1, NPH4, CEP290, WDR19 (IFT144)	Autosomal recessive	Normal prenatal ultrasound	Nephronopthisis;c Leber congenital amaurosis, rarely liver fibrosis or skeletal anomalies
Cranioectodermal dysplasia	WDR35, WDR19 (IFT144), IFT43, IFT122	Autosomal recessive	Normal prenatal ultrasound	Nephronopthisis,c abnormal facies, brachydactyly, short long bones
Oral-facial-digital syndrome	OFD1	X linked dominant	Polycystic kidneys, brachydactyly	Abnormal facies and oral cavity
Renal-hepatic-pancreatic dysplasia (Ivemark’s syndrome)	NPHP3	Autosomal recessive	Bilateral renal cysts, bile duct dilation, pancreatic cyst (very rare and may vary)d	Neonatal death, If rare survival: chronic jaundice, ESRD, insulin dependent diabetes mellitus

Note. This table has been adapted from Avni, 2012.⁷

^aPrenatal ultrasound imaging of kidneys is typically normal, however exceedingly rarely may include small renal cysts or increased echogenicity of kidneys based on case reports.^31,32

^bPrenatal findings other than molar tooth sign are exceedingly rare and vary. Prior case reports have mentioned polydactyly, renal cysts, ventriculomegaly, polyhydramnios, and hypoplastic phallus.³³

^cNephronopthisis is defined as multicystic kidneys leading to progressive fibrosis, renal insufficiency, and end stage renal disease.⁷

^dPresence of findings are exceedingly rare and vary; if present, have been reported as early as 16 weeks.³⁴