Albright osteodystrophy
Classification according to ICD-10 | |
---|---|
E20.1 | Pseudohypoparathyroidism |
ICD-10 online (WHO version 2019) |
The Albright osteodystrophy is a group of rare congenital diseases with the main feature of a osteodystrophy and becomes Pseudohypoparathyroidism counted.
It is often used as a synonym for pseudohypoparathyroidism type IA or as a collective term for pseudohypoparathyroidism (PHP) or pseudo-hypoparathyroidism (pseudo-PHP) .
The name refers to the first author of the first description from 1942 by Fuller Albright and colleagues.
Other names are: Albright-Bantam Syndrome; familial pseudohypoparathyroidism; Constitutional chronic hypocalcemia; hypoparathyroid cretinism; constitutional chronic hypocalcemia; Cretinism hypoparathyroid; Martin Albright Syndrome; Pseudohypoparathyroidism; Familial pseudohypoparathyroidism; pseudohypoparathyroidism; Seabright Bantam Syndrome
classification
The term "Albright osteodystrophy" can be found in the Orphanet database as follows:
- Disease group pseudohypothyroidism with Albright's hereditary osteodystrophy , formerly called Albright's osteodystrophy, hereditary
- Pseudohypoparathyroidism type 1A , synonyms: Albright's hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia
- Pseudohypoparathyroidism type 1C
- Pseudopseudohypoparathyroidism , synonyms: Albright's hereditary osteodystrophy-PPHP syndrome; AHO-PPHP syndrome
- Microdeletion Syndrome 2q37 , synonyms: Albright osteodystrophy, hereditary, type 3; Albright Osteodystrophy-Like Syndrome; Brachydactyly intellectual disorder; Del (2) (q37); Deletion 2q37; Deletion 2q37-qter; Monosomy 2q37-qter
distribution
The inheritance is autosomal dominant .
root cause
The disease (type 1A) are mutations in GNAS - gene on chromosome 20 locus q13.32 basis.
Clinical manifestations
Clinical criteria are:
- Short stature often only after the growth in length has ceased
- round face , short neck , stocky build
- Obesity
- Skeletal changes: brachydactyly , brachymetacarpy (MIC IV, V) with brachytelephalangia , often brachymetatarsia (III – V)
- subcutaneous calcifications
- Mental disability
- chronic hypocalcemia , tetany , intracranial calcifications , cataracts , tooth anomalies, brittle nails , prolonged QT time
literature
- W. Birnbaum, A. Zellmer, P. Staedt, O. Hiort: Albright's hereditary osteodystrophy. A complex endocrine-genetic disorder - when do you have to think about it? In: Kinder- und Jugendmedizin Vol. 9, No. 8, 2009, pp. 454–460
- V. Mariot, S. Maupetit-Méhouas, C. Sinding, ML Kottler, A. Linglart: A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. In: The Journal of clinical endocrinology and metabolism. Vol. 93, No. 3, March 2008, pp. 661-665, doi: 10.1210 / jc.2007-0927 , PMID 18182455 .
- K. Diercks, K. Schulte, HC Schuppe, P. Lehmann: Primary cutaneous osteomas in hereditary Albright osteodystrophy. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 47, No. 9, September 1996, pp. 673-675, PMID 8999021 .
Individual evidence
- ↑ a b Rare Diseases
- ↑ a b Pseudohypoparathyroidism Ia. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ^ F. Albright, CH Burnett, PH Smith, W. Parson: Pseudo-hypoparathyroidism - an example of 'Seabright-Bantam syndrome': report of three cases. In: Endocrinology Vol. 30, pp. 922-932, 1942.
- ↑ [1]
- ↑ Albright's osteodystrophy, hereditary. In: Orphanet (Rare Disease Database).
- ↑ Pseudohypothyroidism with Albright's hereditary osteodystrophy. In: Orphanet (Rare Disease Database).
- ↑ Pseudohypoparathyroidism type 1A. In: Orphanet (Rare Disease Database).
- ^ Pseudohypoparathyroidism type 1C. In: Orphanet (Rare Disease Database).
- ↑ Pseudopseudohypoparathyroidism. In: Orphanet (Rare Disease Database).
- ↑ Microdeletion Syndrome 2q37. In: Orphanet (Rare Disease Database).