|
| Case | Reference | Age at
diagnosis | Sex | Diagnosis | Clinical presentation at diagnosis | Congenital defects | Biopsy
for NB | Ch for NB/
duration | Response to
initial Ch | Srg
For
NB | Ra
For
NB | Development
of WT | Outcome/
follow-up since initial diagnosis |
|
| 1 | Gaulier et al., Pediatr Pathol., 1993 [8] | Newborn | | Unilateral universal
NB | Cystic renal process discovered prenatally | Yes | Yes | No | — | Yes | No | No | Alive/1 yr |
|
| 2 | Regalado et al., Pediatr Pathol.,1994 [9] | Newborn | M | Bilateral universal
NB | Potter's-like facies, hypoplastic lungs, ascites, and bilateral nephromegaly | Yes | Yes (postmortem) | No | — | No | No | No | Dead at age of
21 h |
|
| 3 |
Verloes et al., Clin Genet., 1995 [10] | Newborn | | Bilateral
NB | Fetal overgrowth, macroglossia, and ambiguous genitalia | Yes/atypical Simpson-Golabi-Behmel and
Beckwith-Wiedemann S | Yes (postmortem) | No | — | No | No | No | Dead at age of 2 days |
|
| 4 | Regalado et al., Pediatr Pathol Lab. Med., 1996 [11] | Newborn | M | Bilateral universal
NB | Prenatally diagnosed nephromegaly and renal failure | No | Yes (postmortem) | NO | — | No | No | No | DOD at age of 3.5 mo |
|
| 5 | Henneveld et al., Am J Med Genet., 1999 [12] | 8 mo | F | Unilateral
NB | Nephromegaly FTH and other features of Perlman S | Yes/Perlman S | Yes (postmortem) | NO | — | No | No | No | Dead |
|
| 6 | Spranger et al., J Clin Dysmorphol., 2001 [13] | 8 mo | M | Peri- and intralobar
NB | Macrocephaly and short trunk | Yes/Ischiospinal dysostosis
with rib gaps | Yes | NO | — | No | No | No | Alive/2 mo |
|
| 7 | Prasil et al., Med Pediatr Oncol., 2000 [7] | 15 mo | M | Bilateral
HPLN | Abdominal mass | No | Yes | 5 course VCR-AMD/20 wks | Partial regression | No | No | Yes/5 yrs | Alive/5.5 yrs |
|
| 8 | Prasil et al., Med Pediatr Oncol., 2000 [7] | 13 mo | M | Unilateral
HPLN | Abdominal mass | No | Yes | 3 course VCR-AMD/24 wks | Partial regression | No | No | Yes/28 mo | Alive/3.5 yrs |
|
| 9 | Prasil et al., Med Pediatr Oncol., 2000 [7] | 3 yrs | F | Bilateral
HPLN | Abdominal mass | No | Yes | 2 course VCR-AMD/20 wks | Partial regression | NO | NO | Yes, multifocal with anaplasia/18 mo | NED/4 yrs |
|
| 10 |
Günther et al., Pediatr Radiol., 2004 [14] | 2 yrs | F | Bilateral
DHPLN | NR | NR | No | NR | — | NO | NO | Yes/12 mo | NR |
|
| 11 | Cozzi et al., J Urol., 2004 [15] | 12 mo | F | Bilateral
HPLN | Abdominal mass | No | No | 2-drug/ | — | NO | NO | Yes/4 wks | NED/6 yrs |
|
| 12 | Cozzi et al., J Urol., 2004 [15] | 13 mo | F | Unilateral
HPLN | Abdominal mass/pain | No | No | 2-drug/10 wks | Complete regression | NO | NO | Yes/14 wks | NED/32 mo |
|
| 13 | Hu et al., Nephrol Dial Transplant., 2004 [16] | 21 mo | M | Bilateral
NB | Hypoplastic genitalia, glomerulopathy, and renal failure | Yes/atypical Denys-Drash S and
mutation of WT1 gene | Yes (nephrectomy at time of TN) | No | — | NO | NO | NO | NR |
|
| 14 | Hu et al., Nephrol Dial Transplant., 2004 [16] | 6 yrs | M | Bilateral
NB | Pseudohermaphroditism, glomerulopathy, and renal failure | Yes/atypical Denys-drash S and
mutation of WT1 gene | Yes (nephrectomy at time of TN) | No | — | NO | NO | NO | NR |
|
| 15 | Christiansen et al., Pediatr Dev Pathol., 2005 [17] | Newborn | F | Bilateral
DHPLN | Congenital heart disease, anddiaphragmatic hernia | Yes/mosaic duplication
1(q11q44) | Yes (postmortem) | No | — | NO | NO | NO | Dead at first day of life |
|
| 16 | Machmouchi et al., Pediatr Nephrol., 2005 [18] | 8 mo | F | Bilateral
HPLN | Abdominal distention/respiratory distress/macroscopic hematuria | No | Yes | VRC-AMD-DX/24 wks | Partial regression | NO | NO | NO | NED/1 yr |
|
17
(sibl. of 18) |
Gonzales et al., Am J Med Genet., 2005 [19] | Newborn | M | Bilateral
NB | Lumbosacral meningocele, large cystic and dysplastic kidneys, and oligohydramnios | Yes/diaphanospondylodysostosis | Yes (postmortem) | No | — | NO | NO | No | Dead at first day of life |
|
18
(sibl. of 17) | Gonzales et al., Am J Med Genet., 2005 [19] | Newborn | F | Bilateral
NB | Oligohydramnios and cystic kidneys | Yes/diaphanospondylodysostosis | Yes (postmortem) | No | — | No | No | No | Dead at first day of life |
|
| 19 | Traub et al., Virchows Arch., 2006 [20] | Fetus 24 weeks | M | Bilateral diffuse peri- and intralobar
NB | | Yes/trisomy 13 and loss of WT1
expression | Yes (postmortem) | No | — | No | No | No | Dead at birth |
|
| 20 | Witt et al., J Pediatr Hematol Oncol., 2009 [21] | 9 mo | F | Bilateral
DHPLN | Abdominal distention/respiratory distress/acquired von Willebrand disease | Yes/hip dysplasia | Yes | VCR-AMD/122 wks
13-cis retinoic acid/9 wks
VCR-AMD-DX/NR | Partial regression | No | No | Yes/31.5 mo | Alive/3.6 yrs |
|
| 21 | Vicens et al., Pediatr Dev Pathol., 2009 [22] | 1 yr | M | Unilateral
DHPLN | Abdominal mass | No | Yes | VCR-AMD/4 wks | Partial regression | Yes | No | No | NR |
|
22
(sibl. of 22) | Katzman et al., Pediatr Dev Pathol., 2009 [23] | Newborn | F | Combined
NB | Prenatally diagnosed nephromegaly | No | Yes (postmortem) | No | — | No | No | No | DOD at 6 day of life |
|
23
(sibl. of 21) | Katzman et al., Pediatr Dev Pathol., 2009 [23] | Newborn | M | Intralobar universal
NB | Prenatally diagnosed nephromegaly | No | Yes (postmortem) | No | — | No | No | No | DOD at 10th day of life |
|
| 24 |
Borny et al., JBR-BTR., 2009 [24] | 12 mo | F | Multifocal
PLN | NR | Yes/Beckwith-Wiedemann S | NR | NR | NR | NR | NR | NR | NR |
|
| 25 | Sethi et al., Radiographics., 2010 [25] | 6 mo | F | Bilateral
DHPLN | Abdominal mass | No | No | No | — | No | No | Yes/12 mo | Alive/NR |
|
| 26 | Rauth et al., J Pediatr Surg., 2011 [26] | 10 mo | F | Bilateral
DHPLN | Urinary infection | No | No | 2 courses of VCR-AMD/18 wks and 24 wks | Partial regression | No | No | Yes/3.5 yrs | NR |
|
