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bilateral non-obstructive multicystic renal dysplasia

Wednesday 24 November 2004

Synopsis

- immature conjonctive tissue

Types

- non-syndromic bilateral cystic renal dysplasia (non-syndromic BNORD)

  • sporadic non-syndromic cystic renal dysplasia
  • familial non-syndromic cystic renal dysplasia
  • isolated renal Meckel syndrome
  • partial trisomy resulting from parental unbalanced translocation

- syndromal bilateral cystic renal dysplasia (malformative syndromes - multisystem maldevelopment)

  • malformative syndromes
    • Meckel syndrome (MKS) (MIM.249000)
    • Bardet-Bield syndrome (BBS) (MIM.209900)
    • VATER association (VACTERL association) (MIM.192350)
    • DiGeorge syndrome (MIM.188400)
    • Cumming syndrome (MIM.211890)
    • Goldenhar syndrome (MIM.164210)
    • situs inversus totalis with reno-pancreatic dysplasia (MIM.603643)
    • branchiootorenal syndrome (MIM.113650) (EYAI mutations at 8q13.3)
    • Feingold syndrome (NMYC haploinsufficiency) (#15185158#)
  • osteochondrodysplasias
    • short-rib polydactyly syndromes (SRPSs)
      • short-rib polydactyly syndrome type 1 (Saldino-Noonan syndrome) (SRPS1) (MIM.263530)
      • short-rib polydactyly syndrome type 2 (Majewski syndrome) (SRPS2) (MIM.263520)
      • short-rib polydactyly syndrome type 4 (Beemer-Langer syndrome) (SRPS4) (#9610623#)
    • Jeune syndrome (MIM.208500)
    • nail-patella syndrome (MIM.256020)
    • Ellis-van Creveld disease (MIM.225500)
    • ischiospinal dysostosis (#12868471#)
    • Elejalde syndrome (acrocephalopolydactylous dysplasia) (MIM.200995)
    • thanatophoric dysplasia type 1 (#17375526#)
    • Roberts syndrome (MIM.268300)
  • genetic metabolic diseases
    • Zellweger syndrome (MIM.214100)
    • carnitine palmitoyltransferase deficiency type 2 (CPT2) (MIM.608836)
    • glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency - MADD) (MIM.231680)
    • Smith-Lemli-Opitz syndrome (SLOS) (MIM.270400)
  • chromosomal anomalies
    • trisomy 9
    • trisomy 13
    • trisomy 18
    • trisomy 21
    • t(1;2)(q32;p25) (1q32 and 2p25) (#12694239#)
    • 17q12 deletion including TCF2 (#17924346#)
  • embryopathies/fetopathies
    • fetal alcohol syndrome
    • diabetic embryopathy
  • miscellaneous
    • TCF2-associated renal dysplasia
    • hypoparathyroidism, deafness, and renal dysplasia syndrome (GATA3-associated renal dysplasia) (#15705923#)
    • tuberous sclerosis complex
    • Beckwith-Wiedemann syndrome (BWS)

Associations

- other renal anomalies

  • renal malformations with BNORD
    • hereditary renal adysplasia (association renal agenesis-renal dysplasia)
  • nephroblastomatosis (#2832837#)
    • panlobar nephroblastomatosis (#8108294#)

- BNORD and polydactyly

  • Meckel syndrome (MKS)
  • Bardet-Bield syndrome (BBS)
  • short rib-polydactyly syndromes

- BNORD and heterotaxia (#12605452#)

  • situs inversus totalis (#10746410#)
  • renal dysplasia, situs inversus totalis, and multisystem fibrosis (#1570238#)
  • renal dysplasia, situs inversus totalis, pancreatic dysplasia (#9934983#)
  • bilateral renal dysplasia with pancreatic fibrosis, meconium ileus and situs inversus totalis (#7304173#)
  • bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis (#3402978#)
  • BNORD and asplenia or hyposplenia
    • Crawfurd syndrome (MIM.208540)

- associated malformations

  • ductal plate malformation (DPM) (congenital hepatic fibrosis) (#11155779#)
  • ventricular septal defects (VSDs) (#17106555#)
  • Ebstein anomaly (#8725780#)
  • aortic coarctation
  • intestinal atresia
  • anal atresia (#17106555#)
  • myelomeningocele
  • controlateral congenital ureteral stenosis and hydronephrosis in unilateral case
  • situs anomalies (heterotaxia)
  • penile agenesis (#17106555#)
  • severe pancreatic hypoplasia (HNF1B/MODY5 mutations) (HP.10745) (#16801329#)

Differential diagnosis

- oligocystic kidneys
- polycystic kidney diseases (PKDs)

  • ADPKD (autosomal dominant polycystic kidney disease)
  • ARPKD (autosomic recessive polycystic kidney disease or hepato-pancreato-renal dysplasia)

Case records

- Case 12763: Non-syndromic non-obstructive multicystic renal dysplasia

See also

- reno-hepato-pancreatic dysplastic syndromes
- bilateral obstructive renal dysplasia (BORD)

References

- Dursun A, Ermis B, Numanoglu V, Bahadir B, Seckiner I. Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. Saudi Med J. 2006 Nov;27(11):1745-7. PMID: #17106555#

Reviews

- Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases: a review. Adv Anat Pathol. 2006 Jan;13(1):26-56. PMID: #16462154#

- Woolf AS, Price KL, Scambler PJ, Winyard PJ. Evolving concepts in human renal dysplasia. J Am Soc Nephrol. 2004 Apr;15(4):998-1007. PMID: #15034102#

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