Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate

Popp, D.; Zieger, B; Nützenadel, W.; Schaefer, Franz; Schmitt‐Gräff, Annette

doi:10.1007/s004310051297

Cited by 10 publications

(5 citation statements)

References 16 publications

(15 reference statements)

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“…However, Popp et al 8 reported a patient with osteopetrorickets complicated by vitamin D deficiency in the neonatal period. First, the patient was diagnosed with neonatal rickets due to maternal vitamin D deficiency and after the appropriate treatment of rickets, the patient developed features of osteopetrosis.…”

Section: Discussionmentioning

confidence: 97%

“…In these cases, there is a risk of developing hypocalcemia, with attendant tetany and seizure. In osteopetrosis, there is excess calcium reserve and hypophosphatemia, but when the calcium x phosphorus product (chronically less than 30 mg 2 /dl 2 ) is insufficient to mineralize newly formed bone matrix, development of rickets is probable 4,7,8 . Calcium/phosphorus product in our patient was 20 mg 2 /dl 2 at diagnosis.…”

Section: Discussionmentioning

confidence: 98%

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Scarcity Despite Wealth: Osteopetrorickets

Demirel

Esen

Tunç³

et al. 2010

Journal of Pediatric Endocrinology and Metabolism

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Infantile malignant osteopetrosis is a rare and genetically autosomal recessive disease characterized by osteoclast malfunction. Decreased osteoclast-mediated bone resorption may be inadequate to maintain a normal serum calcium-phosphorus balance in the extracellular fluid. Consequently, despite markedly positive total body calcium balance, patients with osteopetrosis paradoxically could develop rickets. The concurrence of osteopetrosis and rickets has been termed "osteopetrorickets". We report here a 3-month-old boy who was diagnosed with osteopetrorickets with clinical features. Although osteopetrorickets is defined as a rare paradoxical feature of infantile malignant osteopetrosis in some studies, it seems to be more common than was previously known. Coexistence of rickets and osteopetrosis may have adverse effects on clinical response to stem cell transplantation. Therefore, a diagnosis of rickets must be considered in patients with osteopetrosis and then for better results, prior to the SCT, the rickets should be completely treated.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

Scarcity Despite Wealth: Osteopetrorickets

Demirel

Esen

Tunç³

et al. 2010

Journal of Pediatric Endocrinology and Metabolism

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“…Popp et al (19) have suggested that low levels of vitamin D can obscure osteopetrosis signs. The absence of CD68+ osteoclasts in the trephine biopsy suggests that TRAF6 is essential for osteoclast differentiation in humans.…”

Section: Discussionmentioning

confidence: 99%

“…The absence of the TRAF6 protein in our patients led to a proclivity of the OP phenotype for the pelvis and legs, at least temporarily sparing the upper part of the body, a phenomenon for which we do not have an explanation. Popp et al have suggested that low levels of vitamin D can obscure osteopetrosis signs. Our patients have had low levels of vitamin D at first evaluation, and high‐dose supplementation of Vitamin D precluded assessment of its effect on the phenotype.…”

Section: Discussionmentioning

confidence: 99%

Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

et al. 2017

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Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported. The RAG proteins are essential for recombination of B and T cell receptors, and for the survival and differentiation of these cells. This is the first study to report a homozygous deletion of TRAF6 as a cause of human disease.

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“…Accumulation of sclerotic bone results in reduced marrow space and narrowed 4 . This balance can lead to a reduction in bone mass, as seen in osteoporosis, or to abnormal accumulation of bone tissue, as observed in osteopetrosis 1 .…”

Section: Introductionmentioning

confidence: 99%