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Nephroblastomatosis

MedGen UID:
390828
Concept ID:
C2675558
Finding
 
HPO: HP:0008643

Definition

Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. [from HPO]

Conditions with this feature

Renal hamartomas nephroblastomatosis and fetal gigantism
MedGen UID:
162909
Concept ID:
C0796113
Disease or Syndrome
Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).
Diaphanospondylodysostosis
MedGen UID:
374993
Concept ID:
C1842691
Disease or Syndrome
Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).

Recent clinical studies

Etiology

Niu HC, Zhang WP, Sun N, He LJ, Peng Y
Chin Med J (Engl) 2015 Sep 20;128(18):2539-41. doi: 10.4103/0366-6999.164985. PMID: 26365976Free PMC Article
Furtwängler R, Schmolze M, Gräber S, Leuschner I, Amann G, Schenk JP, Niggli F, Kager L, von Schweinitz D, Graf N
Klin Padiatr 2014 May;226(3):175-81. Epub 2014 May 12 doi: 10.1055/s-0034-1371840. PMID: 24819388
Starr LJ, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW
Am J Med Genet A 2014 Apr;164A(4):1079-82. Epub 2014 Mar 4 doi: 10.1002/ajmg.a.36432. PMID: 24596125
Santín S, Fraga G, Ruíz P, Pardo N, Torrent M, Martí T, Ballarín J, Ars E, Torra R
Clin Nephrol 2011 Sep;76(3):244-8. PMID: 21888862
Rauth TP, Slone J, Crane G, Correa H, Friedman DL, Lovvorn HN 3rd
J Pediatr Surg 2011 May;46(5):983-8. doi: 10.1016/j.jpedsurg.2011.01.025. PMID: 21616266Free PMC Article

Diagnosis

Furtwängler R, Schmolze M, Gräber S, Leuschner I, Amann G, Schenk JP, Niggli F, Kager L, von Schweinitz D, Graf N
Klin Padiatr 2014 May;226(3):175-81. Epub 2014 May 12 doi: 10.1055/s-0034-1371840. PMID: 24819388
Cox SG, Kilborn T, Pillay K, Davidson A, Millar AJ
J Pediatr Hematol Oncol 2014 Mar;36(2):e81-4. doi: 10.1097/MPH.0b013e318290c60d. PMID: 23652879
Rauth TP, Slone J, Crane G, Correa H, Friedman DL, Lovvorn HN 3rd
J Pediatr Surg 2011 May;46(5):983-8. doi: 10.1016/j.jpedsurg.2011.01.025. PMID: 21616266Free PMC Article
Vicens J, Iotti A, Lombardi MG, Iotti R, de Davila MT
Pediatr Dev Pathol 2009 May-Jun;12(3):237-8. doi: 10.2350/07-09-0349.1. PMID: 18597570
Cozzi F, Schiavetti A, Cozzi DA, Morini F, Uccini S, Pierani P, Martino A
J Urol 2004 Sep;172(3):1066-9; discussion 1069-70. doi: 10.1097/01.ju.0000134883.12993.82. PMID: 15311039

Therapy

Furtwängler R, Schmolze M, Gräber S, Leuschner I, Amann G, Schenk JP, Niggli F, Kager L, von Schweinitz D, Graf N
Klin Padiatr 2014 May;226(3):175-81. Epub 2014 May 12 doi: 10.1055/s-0034-1371840. PMID: 24819388
Hayes-Jordan A, Green H, Prieto V, Wolff JE
J Pediatr Surg 2012 Apr;47(4):782-7. doi: 10.1016/j.jpedsurg.2011.12.018. PMID: 22498396
Rauth TP, Slone J, Crane G, Correa H, Friedman DL, Lovvorn HN 3rd
J Pediatr Surg 2011 May;46(5):983-8. doi: 10.1016/j.jpedsurg.2011.01.025. PMID: 21616266Free PMC Article
Witt O, Hämmerling S, Stockklausner C, Schenk JP, Günther P, Behnisch W, Hamad B, Al Mulla NA, Kulozik A
J Pediatr Hematol Oncol 2009 Apr;31(4):296-9. doi: 10.1097/MPH.0b013e3181979c70. PMID: 19346886
Cozzi F, Schiavetti A, Cozzi DA, Morini F, Uccini S, Pierani P, Martino A
J Urol 2004 Sep;172(3):1066-9; discussion 1069-70. doi: 10.1097/01.ju.0000134883.12993.82. PMID: 15311039

Prognosis

Niu HC, Zhang WP, Sun N, He LJ, Peng Y
Chin Med J (Engl) 2015 Sep 20;128(18):2539-41. doi: 10.4103/0366-6999.164985. PMID: 26365976Free PMC Article
Furtwängler R, Schmolze M, Gräber S, Leuschner I, Amann G, Schenk JP, Niggli F, Kager L, von Schweinitz D, Graf N
Klin Padiatr 2014 May;226(3):175-81. Epub 2014 May 12 doi: 10.1055/s-0034-1371840. PMID: 24819388
Hayes-Jordan A, Green H, Prieto V, Wolff JE
J Pediatr Surg 2012 Apr;47(4):782-7. doi: 10.1016/j.jpedsurg.2011.12.018. PMID: 22498396
Rauth TP, Slone J, Crane G, Correa H, Friedman DL, Lovvorn HN 3rd
J Pediatr Surg 2011 May;46(5):983-8. doi: 10.1016/j.jpedsurg.2011.01.025. PMID: 21616266Free PMC Article
Günther P, Tröger J, Graf N, Waag KL, Schenk JP
Pediatr Radiol 2004 Aug;34(8):660-4. Epub 2004 Apr 22 doi: 10.1007/s00247-004-1169-9. PMID: 15103425

Clinical prediction guides

Tasian SK, Kim GE, Miniati DN, DuBois SG
J Pediatr Hematol Oncol 2012 Oct;34(7):548-51. doi: 10.1097/MPH.0b013e3182465b58. PMID: 22469945Free PMC Article
Santín S, Fraga G, Ruíz P, Pardo N, Torrent M, Martí T, Ballarín J, Ars E, Torra R
Clin Nephrol 2011 Sep;76(3):244-8. PMID: 21888862
Bergeron C, Iliescu C, Thiesse P, Bouvier R, Dijoud F, Ranchere-Vince D, Basset T, Chappuis JP, Buclon M, Frappaz D, Brunat-Mentigny M, Philip T
Eur J Cancer 2001 Feb;37(3):385-91. PMID: 11239761
Spranger J, Self S, Clarkson KB, Pai GS
Clin Dysmorphol 2001 Jan;10(1):19-23. PMID: 11152142
Gaulier A, Boccon-Gibod L, Sabatier P, Lucas G
Pediatr Pathol 1993 Nov-Dec;13(6):741-9. PMID: 8108294

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