Table 3.
Patients with a known genetic disease referred to the clinic for disease management (n = 19).
| Subject number | Sex/age/ ethnicity | FH | Diagnosis | Basis for diagnosis | Genetic testing | Testing lab | ACMG criteria | Reason for referral |
|---|---|---|---|---|---|---|---|---|
| 1 | F/50/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Arg227Gln | Mount Sinai, New York, NY | LP: PM1, PM2, PP2, PP3, PP5 | Renal biopsy |
| 4–1 | F/56/EUR | Yes—multiple | ADPKD | Cystic kidneys, positive family history | IIHG (Kidneyseq™), Iowa City, IA | CKD f/u | ||
| 6 | M/21/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Ser297Tyr | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 7 | M/29/EUR | No | Cystinosis | Fanconi syndrome, renal rickets and corneal crystals in infancy | Not done | Cysteamine Rx, manage disease | ||
| 8 | F/59/EUR | Yes—multiple | Fabry disease | Slit lamp, positive family history | GLA p.Trp204Ter | Mount Sinai, New York, NY | P: PVS1, PM1, PM2, PP3 | CKD f/u |
| 9 | M/54/AFR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Trp340Ter | Mount Sinai, New York, NY | P: PVS1, PM1, PM2, PP3 | CKD f/u |
| 10 | M/47/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Ala29GlyfsTer2 | Mount Sinai, New York, NY | P; PVS1, PM1, PM2, PP3 | CKD f/u |
| 11 | F/27/EUR | Yes—sister | Cystinosis | Bone marrow biopsy positive for cystine crystals | Not done | Cysteamine Rx | ||
| 19 | F/23/EUR | No | Tuberous sclerosis | Clinical criteria | Not done | Manage renal AMLs | ||
| 26 | F/32/EUR | No | Tuberous sclerosis + TMA in pregnancy | TSC: clinical criteria | TSC 1c.1029+3A>G; PLG p.Thr200Ala | CHG, Cambridge, MA; MORL (Genetic Renal Panel), Iowa City, IA | VUS: PM2, PP3, PP5; VUS: PP3 | Manage tuberous sclerosis |
| 27 | M/18/EUR | Yes—multiple | Fabry disease | Kidney biopsy | GLA p.Cys63Arg | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 28 | M/34/EUR | No | Fabry disease | Symptoms; positive family history | GLA p.Gly260Glu | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 31 | M/24/EUR | No | Unilateral renal aplasia | Antenatal and postnatal imaging | Not done | CAKUT f/u | ||
| 37 | M/59/EUR | Yes—multiple | Suspected Fabry, no manifestation | Low α-GAL A; positive family history | GLA p.Ala143Thr | Mount Sinai, New York, NY | LP: PM1, PM5, PP2, PP3, PP5 | Referred for renal biopsy |
| 62 | F/79/EUR | Yes—multiple | Familial hypocalciuric hypercalcemia | Hypercalcemia, positive family history | CaSR p.Pro55Leu | Mayo Medical Lab, Rochester, MN | LP: PM1, PM2, PP2, PP3, PP4, PP5 | Post-test genetic counseling |
| 66 | F/34/EUR | Yes—sister | aHUS | TMA, genetic screening | CFH p.Leu1189Argfs*2 | 4 | P: PVS1, PM2, PP3 | aHUS post-transplant f/u |
| 67 | M/30/EUR | No | None | Asymptomatic | Negative for NPHP1 variant | IIHG (Kidneyseq™), Iowa City, IA | Preconception-counseling, spouse with NPHP1 deletion | |
| 74 | F/40/EUR | No | aHUS | TMA, genetic screening | CFI p.Tyr369Ser | MORL (Genetic Renal Panel), Iowa City, IA | LP: PM1, PM2, PP3, PP5 | aHUS post-transplant f/u |
| 75 | F/38/EUR | No | aHUS | TMA, genetic screening | CFH p.Glu625Ter | MORL (Genetic Renal Panel), Iowa City, IA | P: PVS1, PM2, PP3 | aHUS post-transplant f/u |
Genetic screening in these patients was performed prior to referral.
ACMG American College of Medical Genetics and Genomics, ADPKD autosomal dominant polycystic kidney disease, AFR African/African American, aHUS atypical hemolytic uremic syndrome, AML angiomyolipoma, CAKUT congenital anomalies of kidney and urinary tract, CHG Center for Human Genetics, CKD chronic kidney disease, EUR Caucasian, f/u follow up, FH family history, IIHG Iowa Institute of Human Genetics, LP likely pathogenic, MORL Molecular Otolaryngology and Renal Research Laboratories, P pathogenic, TMA thrombotic microangiopathy, TSC tuberous sclerosis, VUR vesicoureteric reflux, VUS variant of unknown significance, α-GAL A α-galactosidase A.