HDR syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The HDR syndrome , acronym for H ypoparathyreoidismus - deafness ( D eafness) - R enale malformation is a rare congenital disease with the eponymous main features.
Synonyms are: English Hypoparathyroidism, sensorineural deafness, and renal dysplasia; BARAKAT SYNDROME; NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM
The name refers to the first author of the first description from 1977 by the Lebanese - US pediatrician Amin J. Barakat and colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
root cause
The disease are mutations in GATA3 - gene at locus 10p14 basis that the T-cell -specific transcription factor encoded GATA3.
Clinical manifestations
Clinical criteria are:
- Hypoparathyroidism with hypocalcemia , tetany, convulsions
- Sensory hearing loss mostly on both sides of different severity
- Kidney abnormalities of various types
Other malformations such as uterine or vaginal atresia , Hirschsprung's disease , eye changes such as retinopathia pigmentosa , nystagmus , pseudopapillary edema, ptosis , or developmental delays can also occur.
diagnosis
The diagnosis arises from the combination of clinical findings.
therapy
The treatment relates to the respective key findings, see there.
literature
- Y. Higuchi, K. Hasegawa, M. Yamashita, Y. Fujii, H. Tanaka, H. Tsukahara: HDR syndrome in a Japanese girl with biliary atresia: a case report. In: BMC pediatrics. Vol. 16, 2016, p. 14, doi: 10.1186 / s12887-016-0550-9 , PMID 26800885 , PMC 4724082 (free full text).
- P. Rodríguez Benítez, MT Jaldo Rodríguez, A. Hernández Coronado, E. Torres Aguilera, R. Melero, A. Tejedor: Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness. In: Nefrologia: publicacion oficial de la Sociedad Espanola Nefrologia. Vol. 36, No. 2, 2016 Mar-Apr, pp. 188-189, doi: 10.1016 / j.nefro.2015.04.003 , PMID 26651600 .
Individual evidence
- ↑ a b c Hypoparathyroidism - hearing loss - kidney abnormalities (HDR). In: Orphanet (Rare Disease Database).
- ^ AY Barakat, JB D'Albora, MM Martin, PA Jose: Familial nephrosis, nerve deafness, and hypoparathyroidism. In: The Journal of Pediatrics . Vol. 91, No. 1, July 1977, pp. 61-64, PMID 874665 .
- ^ Hypoparathyroidism, sensorineural deafness, and renal dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ^ Rare Diseases
