Case ReportMulticentric Carpal-Tarsal Osteolysis With Nephropathy Treated Successfully With Cyclosporine A: A Case Report and Literature Review
Section snippets
Case Report
Our patient was born to unrelated parents with no family history of bone or renal disease. At the age of 2 years, his left foot was noted to be smaller than his right. Radiographs showed an apparent delay in the development of the bones of the left foot. Deformities of his wrists and ankles developed over the following years.
Radiographs at 5 years of age showed osteolysis of the carpal and tarsal bones and proximal ends of the metacarpals. The bones were diffusely osteoporotic. Comparison with
Discussion
The first case of “disappearing bone disease” was described in 1938.1 A number of overlapping classifications for the multicentric osteolyses exist, including the International Bone Dysplasia Registry Classification.2 Autosomal dominant, autosomal recessive, and sporadic forms of essential osteolyses were described. Our case is classified as sporadic MCTO with nephropathy.
One study of a recessive form of carpal-tarsal osteolysis without nephropathy localized a disease gene at 16q12-21, encoding
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Cited by (19)
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
2023, European Journal of Medical GeneticsMulticentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab
2021, Bone ReportsCitation Excerpt :Proteinuria and hypertension are the most typical renal manifestations documented (Zagury and Neto, 2001). Focal segmental glomerulosclerosis (FSGS) was reported in some children when biopsy was done early in the disease course (Connor et al., 2007; Zhuang et al., 2017). A case report described non-specific changes in the glomerular basement membrane without changes on light microscopy raising the possibility of the nephropathy being a primary issue with the glomerular basement membrane, similar to Alport syndrome (Bakker et al., 1996; Bakker et al., 1996).
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome
2018, Kidney InternationalCitation Excerpt :Moreover, MCTO can occur with or without FSGS. When FSGS coexists, renal diseases manifest with variable expressivity in approximately 50% of all cases, likely reflecting an incomplete penetrance of the disease allele.14,28 FSGS typically appears several years after the osteolysis has manifested.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
2012, American Journal of Human GeneticsCitation Excerpt :Affected individuals can also have subtle craniofacial abnormalities (triangular faces, micrognathia, and exophthalmos), and many develop a progressive nephropathy leading to end-stage renal failure. Both simplex cases and families with autosomal-dominant inheritance have been reported.5–16 However, the responsible genetic defect has remained elusive.
A case report of Gorham-Stout syndrome remission
2012, Journal of Orthopaedic Science
Originally published online as doi:10.1053/j.ajkd.2007.06.014 on August 1, 2007.