Papillorenal syndrome differential diagnosis: Difference between revisions
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The differential diagnosis of RCS includes conditions where colobomas and renal anomalies have been identified. CHARGE syndrome (coloboma, heart malformations, atresia choanae, retardation of growth and development, genital anomalies, ear and hearing abnormalities) has overlap in that retinal and optic nerve colobomas are found.32 Patients with RCS do not have craniofacial abnormalities or cognitive difficulties typical of CHARGE syndrome. Oligomeganephronia is a common histologic finding in renal hypodysplasia and is not pathognomonic for RCS. Other conditions with renal hypodysplasia include deletions of distal 4p, branchio-oto-renal syndrome and mutations in HNF1beta.33, 34 There is significant overlap with eye findings in patients with PAX6 mutations, but renal anomalies are lacking.35 Patients with COACH or Joubert syndrome can have both colobomas and renal dysplasia leading to end-stage renal disease, however, patients with RCS will not have developmental disability, cerebellar hypoplasia, cerebellar dysfunction and hepatic dysfunction. Cat eye syndrome, or tetraploidy 22q, can have clinical overlap, however, typical iris colobomas are not typically observed. | |||
==References== | ==References== | ||
Revision as of 23:29, 4 September 2020
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The differential diagnosis of RCS includes conditions where colobomas and renal anomalies have been identified. CHARGE syndrome (coloboma, heart malformations, atresia choanae, retardation of growth and development, genital anomalies, ear and hearing abnormalities) has overlap in that retinal and optic nerve colobomas are found.32 Patients with RCS do not have craniofacial abnormalities or cognitive difficulties typical of CHARGE syndrome. Oligomeganephronia is a common histologic finding in renal hypodysplasia and is not pathognomonic for RCS. Other conditions with renal hypodysplasia include deletions of distal 4p, branchio-oto-renal syndrome and mutations in HNF1beta.33, 34 There is significant overlap with eye findings in patients with PAX6 mutations, but renal anomalies are lacking.35 Patients with COACH or Joubert syndrome can have both colobomas and renal dysplasia leading to end-stage renal disease, however, patients with RCS will not have developmental disability, cerebellar hypoplasia, cerebellar dysfunction and hepatic dysfunction. Cat eye syndrome, or tetraploidy 22q, can have clinical overlap, however, typical iris colobomas are not typically observed.