Three cases of multicentric carpotarsal osteolysis syndrome: a case series

Autor:	Kee Hyuck Kim, Kyung Chul Moon, Jin Su Park, Chan Hee Lee, Young Hun Choi, Hye Sun Hyun, Peong Gang Park, Hae Il Cheong, Jeong Hae Kie
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	Male 0301 basic medicine MAFB gene Pathology DNA Mutational Analysis 030232 urology & nephrology Idiopathic osteolysis Gene Expression Case Report Osteolysis Kidney urologic and male genital diseases 0302 clinical medicine Focal segmental glomerulosclerosis Loss of Function Mutation Genetics (clinical) Proteinuria medicine.diagnostic_test Glomerulosclerosis Focal Segmental Focal segmental glomerular sclerosis medicine.anatomical_structure MAFB Child Preschool Disease Progression Female medicine.symptom medicine.medical_specialty lcsh:Internal medicine Adolescent lcsh:QH426-470 MafB Transcription Factor Nephropathy Young Adult 03 medical and health sciences Biopsy Genetics medicine Humans lcsh:RC31-1245 Carpal Bones Multicentric carpotarsal osteolysis syndrome Base Sequence business.industry Cytogenetics Tarsal Bones medicine.disease Tarsal Bone lcsh:Genetics 030104 developmental biology business
Zdroj:	BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018) BMC Medical Genetics
ISSN:	1471-2350
Popis:	Background Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene. Case presentation This report describes three unrelated patients with MAFB mutations, including two male and one female patient. Osteolytic lesions in the carpal and tarsal bones were detected at 2 years, 12 years, and 14 months of age, respectively. Associated proteinuria was noted at 4 years, 12 years, and 3 months of age, respectively. Kidney biopsy was performed in two of them and revealed focal segmental glomerulosclerosis (FSGS). One patient showed progression to end-stage renal disease, that is by 1 year after the detection of proteinuria. The second patient had persistent proteinuria but maintained normal renal function. In the third patient, who did not undergo a kidney biopsy, the proteinuria disappeared spontaneously. The bony lesions worsened progressively in all three patients. Mutational study of MAFB revealed three different mutations, two novel mutations [c.183C > A (p.Ser61Arg) and c.211C > G (p.Pro71Ala)] and one known mutation [c.212C > T (p.Pro71Leu)]. Conclusion We report three cases with MCTO and two novel MAFB mutations. The renal phenotypes were different among the three patients, whereas progressive worsening of the bony lesions was common in all patients. We also confirmed FSGS to be an early renal pathologic finding in two cases. A diagnosis of MCTO should be considered in patients with progressive bone loss concentrated primarily in the carpal and tarsal bones and kidney involvement, such as proteinuria.
Databáze:	OpenAIRE
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