Idiopathic carpotarsal osteolysis with nephropathy

Zagury, Alberto; Neto, João Gonçalves Barbosa

doi:10.1007/s004670000515

Cited by 12 publications

(20 citation statements)

References 28 publications

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“…This is similar to the findings with the patient in the current study. Facial appearance of micrognathia, maxillary hypoplasia, triangular face, higharched palate, exophthalmos, and other skull abnormalities have been described [6,9,11,13]. Scoliosis is also described [11,13].…”

Section: Discussionmentioning

confidence: 97%

“…Type III had 73% of cases showing renal involvement. Zagury et al [6] also summarized the clinical nephrology and renal biopsy findings from the literature. Patients had conditions ranging from hypertension, proteinuria, hematuria, and azotemia.…”

Section: Discussionmentioning

confidence: 97%

“…Zagury et al [6] reported renal involvement in 17 and 10% of types I and II, respectively. Type III had 73% of cases showing renal involvement.…”

Section: Discussionmentioning

confidence: 97%

“…Type I is described in at least 46 patients from 15 families; type II in 10 patients from three families; and type III in 42 patients [6,12]. Type IV, which is also known as GorhamStout disease, can occur anywhere in the body and involves monocentric massive osteolysis and disappearing Clinical appearance of the volar forearms.…”

Section: Discussionmentioning

confidence: 99%

“…Affected bones develop normally until early childhood, when a pattern of acromelic osteolysis begins involving wrists and ankles, and might resemble rheumatoid arthritis in the early stages [4]. The bone resorption can lead to severe cosmetic and functional deformities, and generally ends after childhood [5,6].…”

Section: Introductionmentioning

confidence: 98%

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The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis

Carmichael¹,

Launikitis²,

Kalia³

2007

Journal of Pediatric Orthopaedics B

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

“…Zagury et al [6] reported renal involvement in 17 and 10% of types I and II, respectively. Type III had 73% of cases showing renal involvement.…”

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

See 3 more Smart Citations

The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis

Carmichael¹,

Launikitis²,

Kalia³

2007

Journal of Pediatric Orthopaedics B

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The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Mehawej

Courcet

Baujat

et al. 2013

American J of Med Genetics Pt A

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Multicentric carpo-tarsal osteolysis (MCTO) with or without nephropathy is a rare osteolysis disorder beginning in early childhood and involving mainly carpal and tarsal bones. Renal disease appears later in life in the majority of cases and evolves quickly to end stage renal failure. Autosomal dominant (AD) inheritance has been demonstrated, with a high frequency of sporadic cases. Recently, mutations in a highly conserved region of the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B) have been identified in MCTO patients by exome sequencing. MafB, known as a regulator of various developmental processes, is essential for osteoclastogenesis and renal development. We report here the molecular screening of MAFB in eight MCTO patients from six families. We identified MAFB mutations in all, including three novel missense mutations clustering within the hot spot mutation region. Among the eight patients, six only presented renal disease. Our report confirms the genetic homogeneity of MCTO and provides data underlying the clinical variability of this disorder.

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Carpal-tarsal osteolysis with elbow involvement

et al. 2007

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Carpal-tarsal osteolysis is a rare condition that manifests as the progressive resorption of carpal and tarsal bones in young children. The diagnosis of this condition is often difficult and delayed as the initial clinical presentation is non-specific. Radiographic changes occur gradually, are often not seen at presentation and depend on recognising loss of bone in the ossification centres of the carpus and tarsus. MRI demonstrates morphological abnormalities in the cartilaginous, as well as the osseous components, of the developing carpal and tarsal bones and therefore may be helpful in predating the radiographic changes. Ultrasound appears to contribute little to the diagnosis and may be misleading. Exclusion of other conditions, particularly juvenile idiopathic arthritis, is important in making the diagnosis. MRI can be useful in excluding an inflammatory arthropathy, and suggesting the diagnosis of carpal-tarsal osteolysis.

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Idiopathic carpotarsal osteolysis with nephropathy

Cited by 12 publications

References 28 publications

The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis

The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis

The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Carpal-tarsal osteolysis with elbow involvement

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