Table 6.

Renal and cardiovascular genotype-phenotype relationship; BBSome genes compared with other genes

Signs/SymptomsMutations in BBS1 through BBS11 Gene (Excluding BBS6 and BBS10) (n = 20/33)Mutations in BBS6, BBS10, or BBS12 Gene (n = 10/33)Unknown (n = 3/33)
CKD (stages 2 and 3) (n = 12/33)15% (3/20)70% (7/10)66% (2/3)
Proteinuria (n = 10/30)25% (5/20)20% (2/10)100% (3/3)
Abnormal urine concentration (n = 19/30)55% (11/20)70% (7/10)33% (1/3)
Renal cysts (n = 6/26)20% (4/20)20% (2/10)0% (0/3)
Caliectasis (n = 13/26)35% (7/20)50% (5/10)33% (1/3)
Hypertension (n = 10/28)25% (5/20)20% (2/10)100% (3/3)
Diabetes (n = 2/33)10% (2/20)0% (0/10)0% (0/3)
Dyslipidemia (n = 17/32)45% (9/20)50% (5/10)100% (3/3)
Obesity (n = 23/33)60% (12/20)80% (8/10)100% (3/3)
Metabolic syndrome (n = 13/29)35% (7/20)40% (4/10)66% (2/3)
LVH (n = 5/29)5% (1/20)10% (1/10)100% (3/3)
  • CKD stage 2: eGFR <90 ml/min per 1.73 m2 and markers of kidney damage (proteinuria, hematuria, or morphological abnormalities). CKD stage 3: eGFR <60 ml/min per 1.73 m2.