The osteodystrophy of congenital erythropoietic porphyria

Pullon, Humphrey; Bellingham, A. J.; Humphreys, S.C.; Cundy, Tim

doi:10.1016/8756-3282(91)90005-4

Cited by 18 publications

(9 citation statements)

References 8 publications

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“…X-ray studies show severe contractures of the fingers and atrophy of the terminal phalanges [52] and decreased density of the cancellous extremi- Fritsch/Lang/Bolsen/Lehmann/Ruzicka major and sickle cell anemia [53]. In one patient numerous sclerotic and osteolytic round lesions of various sizes were demonstrated in the skull, maxilla, mandible and pelvic bones [54].…”

Section: Skeletal Changesmentioning

confidence: 99%

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Congenital Erythropoietic Porphyria

Fritsch

Lang

Bolsen

et al. 1998

Skin Pharmacol Physiol

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Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP.

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Section: Skeletal Changesmentioning

confidence: 99%

“…Multiple bone fractures after microtrauma may complicate the situation [55]. Vitamin D insufficiency secondary to sun avoidance may contribute to the manifestation of acroosteolysis [53] and can lead to secondary hyperparathyroidism and a mineralization defect.…”

Section: Skeletal Changesmentioning

confidence: 99%

Congenital Erythropoietic Porphyria

Fritsch

Lang

Bolsen

et al. 1998

Skin Pharmacol Physiol

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“…Despite several large prospective studies having shown that vitamin D deficiency does not result from regular sunscreen use, vitamin D deficiency might be found due to light avoidance in porphyria patients with cutaneous manifestations such us photosensitivity [9,16,17] . However, no general recommendations have been formulated about the need to use vitamin D supplements in porphyria patients [3,18] .…”

Section: Introductionmentioning

confidence: 99%

Nutritional Assessment of Patients Affected by Porphyria Variegata

Romaguera

Puigros²,

Palacín³

et al. 2006

Ann Nutr Metab

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Aims: To describe the nutritional status and dietary practices of patients affected by porphyria variegata, paying special attention to the consumption of nutrients that may help or hinder the condition, and to assess the compliance with prevalent nutritional recommendations. Methods: Cross-sectional study. 24 individuals affected by porphyria variegata (16 females and 8 males; mean age 46.8 (SD 19.5) years) from the Balearic Islands (Spain) recruited through the Balearic Porphyria Association. Dietary questionnaires (7-day dietary record and a semi-quantitative food frequency questionnaire), socio-demographic, lifestyle and health status interviews and anthropometric measurements were carried out. Results: According to current recommendations for the Spanish population and to specific recommendations for porphyria patients, the daily intake of saturated fat (13.2% of total energy), sugars (16.9% of total E), cholesterol (387 mg) and alcoholic beverages (1.1 servings per day) were too high whereas the consumption of total carbohydrates (43.5% of total E), vitamin E (69.5% of RDI), beta-carotene (63.1% of RDI) and vitamin D (42.4% of RDI) was lower than recommended. Conclusions: Dietary pattern observed among porphyria variegata patients was in line with current dietary trends in the Balearic Islands. Nutritional recommendations to these individuals for the management of porphyria are poorly met. It is necessary to translate these recommendations into food-based dietary guidelines based on prevailing dietary patterns.

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“…Oliveri et al [78] treated a woman with congenital erythropoietic porphyria with oral pamidronate 150-300 mg/day for 11 months, which resulted in an increase in bone mineral density and decrease in bone turnover markers, while Pullon et al [85] used oral clodronate, which decreased serum alkaline phosphatase and urinary hydroxyproline but did not affect the bone mineral density. Severe congenital neutropenia can be associated with bone loss due to enhanced production of phagocytic mononuclear cells, and an increase in IL-1 and other cytokines from neutrophils following treatment with G-CSF, which leads to increased osteoclast mediated bone resorption.…”

Section: Bone Diseases Associated With Hematological Disordersmentioning

confidence: 97%

The role of bisphosphonates in diseases of childhood

Srivastava

Alon

2003

European Journal of Pediatrics

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Bisphosphonates are synthetic analogues of pyrophosphate that inhibit bone resorption by their action on osteoclasts. In recent years, bisphosphonates have been used in children for treatment of a growing number of disorders associated primarily with generalized or localized osteoporosis, metabolic bone diseases, heterotopic calcification in soft tissues, and for resistant hypercalcemia. In the present review we discuss the pharmacological aspects of bisphosphonates and related bone pathophysiology, review the pediatric literature on the role of bisphosphonates in childhood diseases and our experience with these drugs. The theoretical concerns of possible adverse effects of these drugs on the growing skeleton have not materialized in the limited pediatric clinical experience. Bisphosphonates provide the pediatrician with an opportunity to treat mineral and bone disorders of childhood which until recently did not have satisfactory therapy, at the same time, being aware of the theoretical concerns on microdamage accumulation in bone, bone quality and teratogenic potential of these drugs.

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The osteodystrophy of congenital erythropoietic porphyria

Cited by 18 publications

References 8 publications

Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria

Nutritional Assessment of Patients Affected by Porphyria Variegata

The role of bisphosphonates in diseases of childhood

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