Table 9 Diagnostic categories in kidney transplanted pediatric cohort and distribution between rare and monogenic diseases

Alport syndrome

63

27

27 (3.0)

27 (3.3)

Autosomal dominant tubulointerstitial kidney disease

34,149

3

3 (0.3)

3 (0.4)

Autosomal dominant tubulointerstitial kidney disease due to HNF1B

93,111

1

1 (0.1)

1 (0.1)

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation

88,950

1

1 (0.1)

1 (0.1)

Autosomal recessive polycystic kidney disease

731

43

43 (4.8)

43 (5.2)

Bardet-Biedl syndrome

110

4

4 (0.5)

4 (0.5)

Branchiootorenal syndrome

107

5

5 (0.6)

5 (0.6)

Caroli Disease

53,035

1

1 (0.1)

1 (0.1)

CHARGE syndrome

138

1

1 (0.1)

1 (0.1)

Congenital nephrotic syndrome

97,556

2

2 (0.2)

1 (0.1)

Congenital nephrotic syndrome type 4

656

6

6 (0.7)

6 (0.7)

Congenital nephrotic syndrome Finnish type

839

34

34 (3.8)

34 (4.1)

Congenital nephrotic syndrome type 2

656

17

17 (1.9)

17 (2.1)

Congenital nephrotic syndrome type 3

656

2

2 (0.2)

2 (0.2)

Cranioectodermal dysplasia

1515

1

1 (0.1)

1 (0.1)

Cystinosis

213

16

16 (1.8)

16 (1.9)

Dense deposit disease

93,571

1

1 (0.1)

Denys-Drash syndrome

220

6

6 (0.7)

6 (0.7)

Ellis-Van Creveld syndrome

289

1

1 (0.1)

1 (0.1)

Fabry disease

324

1

1 (0.1)

1 (0.1)

Familial vesicoureteral reflux

289,365

12

12 (1.4)

12 (1.4)

Fanconi syndrome

3337

1

1 (0.1)

1 (0.1)

Fechtner syndrome

1984

1

1 (0.1)

1 (0.1)

Focal segmental glomerulosclerosis

656

72

72 (8.1)

72 (8.7)

Frasier syndrome

347

2

2 (0.2)

2 (0.2)

Glomerulonephritis

93,559

38

38 (4.3)

Goodpasture disease

375

1

1 (0.1)

Granulomatosis with polyangiitis

900

1

1 (0.1)

1 (0.1)

Hemolytic uremic syndrome

544,458

26

26 (2.9)

26 (3.1)

Henoch-Schonlein purpura

761

1

1 (0.1)

Hepatorenal syndrome

3

Hereditary endotheliopathy-retinopathy-nephropathy-stroke (HERNS) syndrome

63,261

1

1 (0.1)

1 (0.1)

Hypertensive nephrosclerosis

1

Hypoplastic kidneys

93,101

10

10 (1.1)

IgA nephropathy

761

8

8 (0.9)

Jeune syndrome

474

1

1 (0.1)

1 (0.1)

Joubert syndrome with oculorenal anomalies

2318

13

13 (1.5)

13 (1.6)

Leopard syndrome

500

1

1 (0.1)

1 (0.1)

Lowe oculocerebrorenal syndrome

534

2

2 (0.2)

2 (0.2)

Lupus nephritis

300,345

8

8 (0.9)

Megaureter syndrome with oculorenal anomalies

238,637

1

1 (0.1)

Membranous nephropathy

97,560

3

3 (0.3)

Methylmalonic acidemia

293,355

2

2 (0.2)

2 (0.2)

Microscopic polyangiitis

727

3

3 (0.3)

Mitochondrial DNA-associated Leigh syndrome

255,210

2

2 (0.2)

2 (0.2)

Nail-patella syndrome

2614

1

1 (0.1)

1 (0.1)

Neonatal cortical necrosis

13

Nephronophthisis

655

71

71 (8.0)

71 (8.6)

Nephropathy due to chemotherapy

1

Neurogenic bladder

84,085

2

2 (0.2)

Other nephropathy

31

Primary hyperoxaluria type 1

93,598

14

14 (1.6)

14 (1.7)

Primary hyperoxaluria type 2

93,599

1

1 (0.1)

1 (0.1)

Prune belly syndrome

2970

9

9 (1.0)

9 (1.1)

Renal agenesis

411,709

7

7 (0.8)

Renal coloboma syndrome

1475

3

3 (0.3)

3 (0.4)

Renal or urinary tract malformation

93,545

327

327 (36.9)

Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome

3032

1

1 (0.1)

1 (0.1)

Schimke immune-osseous dysplasia

1830

1

1 (0.1)

1 (0.1)

Sirenomelia

3169

1

1 (0.1)

1 (0.1)

Split hand urinary anomalies spina bifida (Czeizel-Losonci syndrome)

2437

4

4 (0.5)

Townes-Brocks syndrome

857

1

1 (0.1)

1 (0.1)

Trauma

1

VACTERL/VACTER association

887

2

2 (0.2)

2 (0.2)

Vasculitis

52,759

7

7 (0.8)

Wilms tumor

654

2

2 (0.2)