Renal coloboma syndrome
| Classification according to ICD-10 | |
|---|---|
| Q60.4 | Renal hypoplasia, bilateral |
| ICD-10 online (WHO version 2019) | |
A Renal coloboma syndrome is a very rare congenital disease with the main features colobomata (or dysplasia of the optic nerve ) combined with dysplasia or hypoplasia of the kidneys .
Synonyms are: coloboma of the optic nerve - kidney disease; Kidney coloboma syndrome; Papillo-renal syndrome, English Renal colobima syndrome; RCS
The first description was probably made by the ophthalmologist Gebhard Rieder in 1977. In 1988 the American ophthalmologist R. Gray Weaver published a detailed description of the syndrome.
distribution
The frequency is unknown; fewer than 200 patients have been reported to date; the inheritance is autosomal dominant .
root cause
The disease are about 50% mutations in the PAX2 - gene on chromosome 10 locus q24.31 basis.
Clinical manifestations
Clinical criteria are:
- Optic nerve dysplasia or coloboma, eye changes in 77% with reduced visual acuity, possibly blindness and retinal detachment
- Renal hypo- or dysplasia in 92%, often histologically reduced but enlarged glomeruli (oligomeganephronia) with high blood pressure , proteinuria , renal insufficiency up to renal failure
diagnosis
The kidney changes can already be detected intrauterine by means of fine ultrasound , the mutation can also be detected human genetically .
Differential diagnosis
Other clinical pictures with coloboma and kidney anomalies are to be distinguished, in particular CHARGE syndrome and Joubert syndrome .
literature
- T. Okumura, K. Furuichi, T. Higashide, M. Sakurai, S. Hashimoto, Y. Shinozaki, A. Hara, Y. Iwata, N. Sakai, K. Sugiyama, S. Kaneko, T. Wada: Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. In: PLOS ONE . Vol. 10, No. 11, 2015, p. E0142843, doi: 10.1371 / journal.pone.0142843 , PMID 26571382 , PMC 4646464 (free full text).
- J. Adam, AC Browning, D. Vaideanu, L. Heidet, JA Goodship, JA Sayer: A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation. In: Clinical kidney journal. Vol. 6, No. 4, August 2013, pp. 410-413, doi: 10.1093 / ckj / sft058 , PMID 27293569 , PMC 4898336 (free full text).
Individual evidence
- ↑ a b c d e Renal Coloboma Syndrome. In: Orphanet (Rare Disease Database).
- ↑ G. Rieger: On the clinical picture of Handmann's optic nerve anomaly: 'Winderblum' - ('Morning Glory') syndrome ?. In: Clinical monthly sheets for ophthalmology. Vol. 170, No. 5, May 1977, pp. 697-706, PMID 894968 .
- ↑ RG Weaver, LF Cashwell, W. Lorentz, D. Whiteman, KR Geisinger, M. Ball: Optic nerve coloboma associated with renal disease. In: American journal of medical genetics. Vol. 29, No. 3, March 1988, pp. 597-605, doi: 10.1002 / ajmg.1320290318 , PMID 3377002
- ↑ Papillorenal syndrome. In: Online Mendelian Inheritance in Man . (English)
