Многоцентровый карпотарсальный синдром остеолиза
| Многоцентровый карпотарсальный синдром остеолиза | |
|---|---|
| Другие имена | МакТО [ 1 ] |
 | |
| Это условие унаследовано аутосомно -доминантным образом. | |
| Specialty | Medical genetics |
Многоцентрический карпотарский синдром остеолиза (MCTO) является редким аутосомным доминантным состоянием. [ 2 ] Это условие также известно как идиопатический мультицентрический остеолиз с нефропатией. Это характеризуется заплеской - разрушением лапсала и почечной недостаточностью .
Признаки и симптомы
[ редактировать ]Презентация имеет постепенную потерю небольших костей в карпу и лапсе. Это может привести к подвывису и нестабильности. Почечная недостаточность , когда присутствует, обычно представляет присутствие белка в моче .
В некоторых случаях могут быть также черепно -лицевые аномалии, включая [ Цитация необходима ]
- Треугольные фации
- Микрогнатия
- Верхнечелюстная гипоплазия
- Экзофтальмос
Histology of renal biopsies show glomerulosclerosis and severe tubulointerstitial fibrosis.
Intellectual disability may occur.
Genetics
[edit]This condition is caused by mutations in the transcription factor MafB, or V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB), gene.[3] This gene encodes a basic leucine zipper (bZIP) transcription factor.
The gene is located on the long arm of chromosome 20 (20q11.2-q13.1).
Pathogenesis
[edit]How this mutation causes the clinical picture is not currently clear.[citation needed]
Diagnosis
[edit]The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the MAFB gene.
Classification
[edit]This condition has been classified into five types.[4]
- Type 1: hereditary multicentric osteolysis with dominant transmission
- Type 2: hereditary multicentric osteolysis with recessive transmission
- Type 3: nonhereditary multicentric osteolysis with nephropathy
- Type 4: Gorham–Stout syndrome
Differential diagnosis
[edit]The condition should be differentially diagnosed from juvenile rheumatoid arthritis and other genetic skeletal dysplasias as Multicentric Osteolysis, Nodulosis, and Arthropathy.[5][6]
Treatment
[edit]Optimal treatment for this condition is unclear. Bisphosphonates and denosumab may be of use for the bone lesions. Cyclosporine A may be of use for treating the nephropathy. Steroids and other immunosuppressant drugs do not seem to be of help.
History
[edit]This condition was first described by Shurtleff et al. in 1964.[2]
References
[edit]- ^ "OMIM Entry - # 166300 - MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO". omim.org. Retrieved 27 April 2019.
- ^ Jump up to: a b Shurtleff DB, Sparkes RS, Clawson DK, Guntheroth WG, Mottet NK (1964) Hereditary osteolysis with hypertension and nephropathy. JAMA 188:363–368
- ^ Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor M-C, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell, AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA (2012) Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet 90: 494-501
- ^ Hardegger F, Simpson LA, Segmueller G (1985) The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg Br 67(1):88-93
- ^ Bhavani, GS; Shah, H; Shukla, A; Gupta, N; Gowrishankar, K; Rao, AP; Kabra, M; Agarwal, M; Ranganath, P; Ekbote, AV; Phadke, SR; Kamath, A; Dalal, A; Girisha, KM (February 2016). "Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy". American Journal of Medical Genetics. Part A. 170A (2): 410–417. doi:10.1002/ajmg.a.37447. PMID 26601801.
- ^ Elsebaie, H; Mansour, MA; Elsayed, SM; Mahmoud, S; El-Sobky, TA (December 2021). "Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations". Bone Reports. 15: 101106. doi:10.1016/j.bonr.2021.101106. PMC 8283316. PMID 34307793.