Table 3.
Clinical renal samples: all patients with indication for testing, family history, disease type and demographics; family history, when known, are shown as positive (Y) or negative (N)
| Case | Indication for testing | Family history | Disease categorya,b | Sex | Age (years) | Ethnicity |
|---|---|---|---|---|---|---|
| 1 | Bilateral multicystic dysplastic kidneys | Y | 1 | F | 6 | Hispanic |
| 2 | Renal dysplasia | Unknown | 1 | M | 1 | Caucasian, non-Hispanic |
| 3 | Stage 5 (CKD), hearing loss | Unknown | 4 | M | 37 | Asian |
| 4 | FSGS at age 40 years | N | 4 | M | 66 | Caucasian, non-Hispanic |
| 5 | Proteinuria, FSGS | Y | 4 | M | 54 | African/African-American, non-Hispanic |
| 6 | Alport syndrome | Y | 4 | M | 34 | White |
| 7 | Dent disease (NDI, failure to thrive) | Unknown | 3 | M | 1 | Caucasian, Hispanic or Latino |
| 8 | Nephronophthisis | Y | 2 | F | 10 | African/African-American |
| 9 | FSGS | Unknown | 4 | M | 54 | African/African-American |
| 10 | Nephrotic syndrome | Unknown | 4 | M | 3 | Hispanic or Latino |
| 11 | Medullary cystic kidney disease | Unknown | 2 | M | 27 | Caucasian, non-Hispanic |
| 12 | Hypomagnesemia | Unknown | 3 | F | 11 | Not provided |
| 13 | FSGS | Unknown | 4 | M | 58 | Caucasian, non-Hispanic |
| 14 | Medullary cystic kidney disease/ nephronophthisis | Unknown | 2 | M | 31 | Caucasian |
| 15 | Hypercalcemia, hypocalciuria | N | 3 | F | 81 | Caucasian |
| 16 | Dilated cardiomyopathy and hypomagnesemia | N | 3 | M | 3 | Caucasian |
| 17 | Fanconi syndrome, hypophosphatemic rickets | Unknown | 3 | M | 2 | Caucasian, aboriginal |
| 18 | ESRD, primary FSGS | Unknown | 4 | M | 55 | Caucasian |
| 19 | Severe CAKUT | Unknown | 1 | M | <1 | Caucasian, Hispanic or Latino |
| 20 | Alport syndrome | Unknown | 4 | M | 5 | Asian (India), non-Hispanic |
| 21 | Hypercalcemia, hypercalciuria, short stature | Unknown | 3 | M | 2 | Caucasian, non-Hispanic |
| 22 | Interstitial nephritis | Unknown | 2 | F | 10 | Caucasian |
| 23 | U/S prenatal echogenic kidneys, postna- tal bilateral cysts, HNF1B disease | Unknown | 1 | M | <1 | Caucasian, non-Hispanic |
| 24 | Bartter syndrome or other | Unknown | 3 | M | 1 | Not provided |
| 25 | ESRD, tubulointerstitial disease | Y | 2 | M | 51 | African/African-American |
| 26 | Bilateral hypoplastic dysplastic kidneys | Unknown | 1 | M | <1 | Caucasian, Hispanic or Latino |
| 27 | Microhematuria, Alport or TBM disease | Unknown | 4 | M | 2 | Caucasian, Hispanic or Latino |
| 28 | FSGS or MCKD | Y | 2, 4 | M | 60 | African/African-American, non-Hispanic |
| 29 | Alport or TBM disease | Unknown | 4 | M | 18 | Caucasian, non-Hispanic |
| 30 | FSGS, SRNS, hypoalbuminemia | Unknown | 4 | M | 17 | Caucasian, non-Hispanic |
| 31 | FSGS or Dent disease. Nephroticrange proteinuria, global glomerulosclerosis | Unknown | 3, 4 | M | 18 | African/African-American |
| 32 | ADTKD, tubular proteinuria, no signs of Fanconi | Y | 2 | M | 18 | Unknown |
| 33 | Alport syndrome. Hearing loss, microscopic hematuria, CKD | Unknown | 4 | M | 12 | Caucasian |
| 34 | Renal agenesis/hypoplasia or nephronophthisis | Y | 1, 2 | F | 16 | Hispanic or Latino |
| 35 | Gitelman/Bartter syndrome | Unknown | 3 | F | 17 | Caucasian |
| 36 | Bilateral multicystic dysplastic kidneys, perinatal death | Unknown | 1 | M | 0b | Unknown |
| 37 | Bartter syndrome, NDI or Dent disease. Polyuria, polydipsia, hypercalciuria, medullary nephrocalcinosis | Unknown | 3 | M | 16 | Caucasian, non-Hispanic |
| 38 | Pseudohypoaldosteronism. Hyperkalemia, polyuria | Unknown | 3 | M | 0b | Hispanic or Latino |
| 39 | Multicystic bilateral kidneys | Unknown | 1 | M | 0b | Caucasian, non-Hispanic |
| 40 | Apparent mineral corticoid excess | Unknown | 3 | M | 2 | Not provided |
| 41 | Bartter syndrome. Polyuria, metabolic alkalosis | Unknown | 3 | F | 3 | Caucasian, non-Hispanic |
| 42 | Liddle syndrome. Early onset hypertension and hypokalemia | Y | 3 | F | 19 | Caucasian, Hispanic or Latino |
| 43 | PKD (bilateral renal cysts and hypertension) | Unknown | 2 | M | 15 | Hispanic or Latino |
| 44 | NDI, medullary nephrocalcinosis, vesicoureteral reflux, hypophosphatemia | Unknown | 3 | F | 3 | Caucasian, non-Hispanic |
| 45 | Cystinuria | Y | 3 | F | 19 | Caucasian |
| 46 | FSGS or minimal change disease. Persistent proteinuria | Unknown | 4 | M | 5 | Caucasian, non-Hispanic |
| 47 | Hypokalemia, hypomagnesemia, high urinary Na and K, prior diagnosis of NDI | Unknown | 3 | F | 59 | Caucasian, non-Hispanic |
| 48 | Hypotonia, dysmorphic features, developmental delay, obesity | Unknown | 5 | F | 2 | Caucasian, non-Hispanic |
| 49 | Horseshoe kidney asymptomatic; daughter, son perinatal/fetal demise with CAKUT | Y | 1 | F | 33 | Caucasian, Native American, non-Hispanic |
| 50 | Proximal tubulopathy or Dent or hypophosphatemic rickets, nephrocalcinosis, small stature | Unknown | 3 | F | 13 | Asian, non-Hispanic |
| 51 | FSGS, ESRD, post-kidney transplant | Unknown | 4 | M | 15 | Hispanic or Latino |
| 52 | PKD1, PKD2, HNF1B | Unknown | 2 | M | 6 | Hispanic or Latino |
| 53 | Renal cysts, family history of hereditary nephritis | N | 2 | F | 49 | Asian, non-Hispanic |
| 54 | Polycystic kidney disease, undescended testes, HTN | N | 2 | M | <1 | Caucasian, non-Hispanic |
| 55 | ESRD, FSGS | Y | 4 | M | 64 | African/African-American |
| 56 | HTN, AKI, LVH, congenital nephrotic syndrome or ARPKD | Unknown | 2, 4 | F | <1 | Not provided |
| 57 | Moderate CKD | Unknown | 5 | M | 1 | Not provided |
| 58 | Not provided | Unknown | 5 | F | 16 | Not provided |
| 59 | Bartter/Gitelman syndrome, hypokalemia, hypomagnesemia and metabolic alkalosis | Unknown | 3 | M | 12 | Not provided |
| 60 | Nephronophthisis or MCKD | Y | 2 | M | 58 | Caucasian, non-Hispanic |
| 61 | Polycystic kidney disease | Unknown | 2 | F | 51 | African/African-American |
| 62 | FSGS or MCKD | Y | 2, 4 | M | 56 | African/African-American |
| 63 | FSGS/multicystic dysplastic kidney | Y | 1, 4 | M | 15 | Caucasian, non-Hispanic |
| 64 | Hyperplastic nephrogenic rests, features seen with underlying syndromes such as Beckwith–Wiedemann | Unknown | 5 | F | <1 | Not provided |
| 65 | Hypophosphatemic rickets; distal renal tubular acidosis; isolated proximal renal tubular acidosis, generalized proximal defect | N | 3 | F | 0b | Hispanic or Latino |
| 66 | FSGS | Unknown | 4 | F | 10 | African/African-American, non-Hispanic |
| 67 | Horseshoe kidney, dysmorphic features, VSD | Y | 1 | F | <1 | Egyptian |
| 68 | Kidney stones, paresthesias, hypercalciuria, hypoparathyroidism, ESRD | Y | 3 | M | 58 | Caucasian |
| 69 | Large cystic kidneys | N | 2 | M | 27 | Caucasian, non-Hispanic |
| 70 | Renal cystic dysplasia, ectopic atrial tachycardia, CUA, seizures, LVH; dialysis from birth | Unknown | 2 | F | <1 | Caucasian |
| 71 | Steroid-resistant nephrotic syndrome | N | 4 | F | 8 | Asian, multiracial |
| 72 | MCD, unresponsive to steroids | N | 2 | F | 3 | African/African-American |
| 73 | Glomerulocystic kidneys and hepatoblastoma | N | 2 | F | 3 | Hispanic or Latino |
| 74 | Alport syndrome | 4 | M | 13 | Caucasian | |
| 75 | Steroid-resistant nephrotic syndrome | Y | 4 | M | 4 | Dominican Republic |
| 76 | Gitelman syndrome | N | 3 | F | 23 | Not provided |
| 77 | Not provided | Y | 5 | M | 57 | Not provided |
| 78 | Nephronophthisis | Y | 2 | F | 38 | Caucasian |
| 79 | Premature newborn with severely en larged cystic kidneys noted mid-trimester, severe oligohydramnios, pulmonary hypoplasia | N | 2 | F | 0b | Caucasian, Hispanic or Latino |
| 80 | Alport syndrome | Unknown | 4 | F | 11 | Caucasian |
| 81 | Hyponatremia, hypokalemia, nephrotic- range proteinuria, glucosuria | N | 3 | M | 1 | Caucasian, non-Hispanic |
| 82 | Global glomerulosclerosis | Y | 4 | F | 65 | African/African-American, non-Hispanic |
| 83 | Juvenile nephronophthisis and MCKD | Unknown | 2 | F | 29 | Not provided |
| 84 | Not provided | Unknown | 5 | M | 14 | Not provided |
| 85 | X-linked hypophosphatemic rickets | Unknown | 3 | F | 1 | Caucasian, non-Hispanic |
| 86 | Orofaciodigital syndrome I | Unknown | 2 | F | 21 | Caucasian, non-Hispanic |
| 87 | Bilateral cystic kidneys | Unknown | 2 | M | 0b | Native American, Hispanic or Latino |
| 88 | Renal tubular acidosis | Unknown | 1 | F | 9 | Caucasian, Hispanic |
| 89 | Childhood nephrotic syndrome, possibly collapsing FSGS | Unknown | 4 | F | 9 | African/African-American, non-Hispanic |
| 90 | Alport syndrome | N | 4 | F | 6 | Caucasian |
| 91 | CKD, looking for APOL1 risk variants | N | 4 | F | 18 | African/African-American |
| 92 | Bilateral cystic kidney disease | Unknown | 2 | F | 14 | Caucasian, non-Hispanic |
| 93 | Congenital bilateral echogenic kidneys with small cysts | N | 2 | F | 5 | Not provided |
| 94 | Failure to thrive, presented with HTN and chronic renal failure | N | 5 | F | 6 | Caucasian |
| 95 | FSGS and hypertension | Unknown | 4 | M | 54 | Not provided |
| 96 | Alport syndrome, branchio-oto-renal syndrome (BOR), ESRD, nephronophthisis | Unknown | 2, 4 | M | 16 | Caucasian |
| 97 | Bartter syndrome | Unknown | 3 | F | 2 | Multiracial, Hispanic or Latino |
| 98 | Autosomal recessive polycystic kidney disease | Unknown | 2 | M | 0b | Caucasian |
| 99 | Polycystic kidney disease | Y | 2 | M | 7 | Caucasian |
| 100 | Nephrotic syndrome | N | 4 | M | 2 | Caucasian |
| 101 | Chronic kidney stones and alkaline urine | Unknown | 2 | M | 18 | Not provided |
| 102 | Autosomal recessive polycystic kidney disease | Unknown | 2 | M | 0b | Brazilian/Mexican, Hispanic or Latino |
| 103 | Nephrotic-range proteinuria | N | 4 | M | <1 | Caucasian |
| 104 | Papillorenal syndrome (renal-coloboma syndrome) | N | 1 | M | 2 | Caucasian, Hispanic or Latino |
| 105 | Not provided | N | 5 | M | 14 | Caucasian |
| 106 | ADPKD | N | 2 | M | 12 | Caucasian |
| 107 | Congenital nephrotic syndrome | Unknown | 4 | F | 0b | Hispanic or Latino |
| 108 | Not provided | Unknown | 5 | F | 6 | Not provided |
| 109 | Isolated multicystic dysplastic kidney disease and polycystic kidney disease | Unknown | 2 | M | 7 | Not provided |
| 110 | NDI | N | 3 | M | 1 | Caucasian, non-Hispanic |
| 111 | BOR or isolated CAKUT | Unknown | 1 | F | 2 | Not provided |
| 112 | Dent disease, Bartter or Gitelman syndromes | Unknown | 3 | M | 23 | Caucasian, non-Hispanic |
| 113 | ESRD of unknown etiology | Y | 5 | M | 20 | Hispanic or Latino |
| 114 | IgA nephropathy or FSGS | N | 4 | M | 11 | African/African-American |
| 115 | FSGS or diffuse mesangial sclerosis | Unknown | 4 | M | 4 | Caucasian |
| 116 | Alport syndrome | Y | 4 | M | 13 | Caucasian, non-Hispanic |
| 117 | Liddle syndrome | Unknown | 3 | F | 4 | Not provided |
| 118 | Nephrotic syndrome | Unknown | 4 | M | 8 | African/African-American |
| 119 | CDK Stage 2, FSGS | Unknown | 4 | F | 16 | African/African-American, non-Hispanic |
| 120 | ESRD due to FSGS | Unknown | 4 | F | 20 | Not provided |
| 121 | Juvenile nephronophthisis | Unknown | 2 | M | <1 | Not provided |
| 122 | Zellweger syndrome, Galloway–Mowat syndrome, podocytopathy | Unknown | 4 | M | 1 | Caucasian, non-Hispanic |
| 123 | Steroid-resistant nephrotic syndrome | Unknown | 4 | M | <1 | Caucasian, non-Hispanic |
| 124 | Bartter/Gitelman syndromes, pseudohypoaldosteronism Type 1 | Unknown | 3 | M | <1 | African/African-American |
| 125 | Nephronophthisis | Unknown | 2 | M | 15 | Caucasian |
| 126 | Nephronophthisis | N | 2 | F | 12 | Native Hawaiian or other Pacific Islander, non-Hispanic |
| 127 | Bartter syndrome, Gitelman syndrome or NDI | Y | 3 | M | 2 | Caucasian, non-Hispanic |
a
Disease category is associated with indication for testing.
b
Disease categories: 1 = CAKUT; 2 = ciliopathies or tubulointerstitial disease; 3 = disorders of tubular ion transport; 4 = glomerulopathies; 5 = unclassified or other.
ADTKD, autosomal dominant tubulointerstitial disease; ARPKD, autosomal recessive polycystic kidney disease; CUA, calcific uremic arteriolopathy; F, female; HTN, hypertension; LVH, left ventricular hypertrophy; M, male; MCD, minimal change disease; MCKD, medullary cystic kidney disease; TBM, thin basement membrane disease; U/S, ultrasound VSD, ventricular septal defect; Y/N, yes/no.