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renal dysplasias

Definition: The term ’renal dysplasia’ defines a developmental anomaly of the kidney resulting from an abnormal differentiation of the metanephric parenchyma (Ridson, 1971).

It represents a collection of anomalies in which kidneys begin to form but then fail to differentiate into normal nephrons and collecting ducts. Dysplasia is the principal cause of childhood end-stage renal failure.

This anomaly of renal differentiation results in a structurally disorganized kidney contain abnormal metanephric elements (primitive ducts and metaplastic cartilage). It consists of microscopic structures not found in normal nephrogenesis.

Two main theories have been considered in its pathogenesis: A primary failure of ureteric bud activity and a disruption produced by fetal urinary flow impairment. Recent studies have documented deregulation of gene expression in human dysplasia, correlating with perturbed cell turnover and maturation.

Mutations of nephrogenesis genes have been defined in multiorgan dysmorphic disorders in which renal dysplasia can feature, including Fraser syndrome, maternal diabetes fetal syndrome, and Kallmann syndrome.

NB: For some authors, renal dysplasia signify only fetal renal cystic diseases.

Epidemiology

- bilateral renal dysplasia: 37% or renal malformations
- unilateral renal dysplasia (with or without controlateral renal agenesis): 7.1% of renal malformations

  • segmental renal dysplasia
  • focal renal dysplasia

Synopsis

- disorganization of renal architecture

  • abnormal tubulogenesis
  • abnormal glomerulogenesis
  • cyst formation
  • immature nephronic (immature nephrons) and ductal structures (immature renal ducts)

- primary ducts or primitive ducts

  • small tubules surrounded by concentrically arranged mesenchyme
  • tubules are lined by a single layer of cuboidal cells or columnar cells
  • thick and eosinophilic basement membrane
  • myxoid, moderately cellular condensation of spindle cells around the ductules
  • primary ducts derived from the branching collecting ducts. Present in both cortex and medulla, they often become cystic.

- irregularly distributed immature glomeruli and tubules
- connective tissue loose and immature
- islands of immature cartilage (not required)
- renal cysts of varying size, lined by cuboidal or flattened epithelium
- renal cysts involving any part of the nephron
- dilatation of proximal tubules and/or distal tubules
- +/- atretic uretere

Topography

- focal renal dysplasia
- segmental renal dysplasia
- diffuse renal dysplasia

  • unilateral diffuse renal dysplasia
  • bilateral diffuse renal dysplasia

Etiology

- obstructive renal dysplasia (obstructive multicystic renal dysplasia) (urinary tract obstruction at any level)

  • segmental obstructive renal dysplasia
  • bilateral obstructive renal dysplasia

- multicystic renal dysplasia (diffuse cystic renal dysplasia)

  • nonsyndromal diffuse cystic renal dysplasia
    • hereditary renal adysplasia (association of a renal dysplasia and unilateral renal agenesis)
  • syndromal diffuse cystic renal dysplasia
    • inherited metabolic diseases
      • Zellweger syndrome (MIM.214100)
      • carnitine palmitoyltransferase deficiency (MIM.255110)
      • glutaric aciduria type 2 (MIM.231680)
      • Smith-Lemli-Opitz syndrome
    • malformatives syndromes
      • Meckel syndrome (Meckel-Gruber syndrome) (MIM.249000) and Simopoulos syndrome (polycystic kidneys, internal hydrocephalus and polydactylism) (MIM.249000)
      • Goldston syndrome (renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst) (MIM.267010)
      • Miranda syndrome (MIM.?)
      • Jeune syndrome
      • Majewski syndrome
      • Saldino-Noonan syndrome
      • short-rib polydactyly syndrome
      • Ellis-van Creveld syndrome
      • Elejalde syndrome
      • Roberts syndrome
      • hereditary renal adysplasia
      • nail-patella syndrome
      • tuberous sclerosis complex
      • von Hippel-Lindau syndrome
      • Beckwith-Wiedemann syndrome
      • DiGeorge syndrome
      • VATER association (VATER syndrome)
    • trisomies (trisomy 9, trisomy 13, trisomy 18, trisomy 21)
    • fetal alcohol syndrome
    • diabetic embryopathy
    • syndrome RSF (renal dysplasia, situs inversus totalis, multisystem fibrosis) (#1570238#, #3402978#))

- solid non-cystic renal dysplasia

Miscellaneous associations

    • pulmonary agenesis (#2690040#)
    • unilateral microophthalmia (#2690040#)

(NB: renal-hepatic-pancreatic dysplasia (former Ivemark II syndrome) has not been considered as a renal dysplasia and is referred in ARPHD (autosomal recessive polycystic kidney disease).

Variants

- renal adysplasia (association unilateral renal agenesis and controlateral renal dysplasia)
- hypoplastic renal dysplasia (small kidneys with extensive renal dysplasia)
- aplastic renal dysplasia (association of a renal dysplasia and unilateral renal agenesis)

Differential diagnosis

- renal polycystic diseases (renal PKDs)

Animal models

- cyclooxygenase-2 null mice (COX2-null mice) (#11115063#)

Case records

- Case 11385: Renal adysplasia (association unilateral renal agenesis and controlateral renal dysplasia)
- Case 12763: Non-syndromic bilateral non-obstructive multicystic renal dysplasia (non-syndromic BNOMRD)

References

- Jain S, Suarez AA, McGuire J, Liapis H. Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease. Pediatr Nephrol. 2007 Jul;22(7):962-74. PMID: #17450386#

- 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#

- Shibata S, Nagata M. Pathogenesis of human renal dysplasia: an alternative scenario to the major theories. Pediatr Int. 2003 Oct;45(5):605-9. PMID: #14521545#