Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate
-
Merve Emecen Sanli
,
Ayse Kilic
,
Ilyas Okur
Abstract
Objectives
Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Here we report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia.
Case presentation
The patient was started to the treatment with peroral acetazolamide however the lesion did not regress but a new lesion appeared then we added sevelamer and topical sodium thiosulfate treatment for three months. After the three months of the combination treatment the lesions, there were no pain, no hyperphospahtemia regression/disappearance of the lesions.
Conclusions
This combination treatment or topical sodium thiosulfate use only may be a novel treatment strategy for the patients prospective controlled trials are needed.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Informed Consent: Written informed consent was obtained from the parents and the patient who participated in this study.
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Provocative growth hormone testing in children: how did we get here and where do we go now?
- Original Articles
- Mental and somatic health in university students with type 1 diabetes: new results from DiaSHoT18, a cross sectional national health and well-being survey
- Prevalence of elevated liver enzymes and their association with type 2 diabetes risk factors in children
- What is the relationship between obesity and new circadian rhythm parameters in Turkish children and adolescents? A case-control study
- Body fat distribution in trunk and legs are associated with cardiometabolic risk clustering among Chinese adolescents aged 10–18 years old
- Is overweight/obesity a risk factor for atopic allergic disease in prepubertal children? A case–control study
- Importance of individualizing treatment decisions in girls with central precocious puberty when initiating treatment after age 7 years or continuing beyond a chronological age of 10 years or a bone age of 12 years
- Blood pressure dynamics after pubertal suppression with gonadotropin-releasing hormone analogs followed by estradiol treatment in transgender female adolescents: a pilot study
- Levels of physical activity and barriers to sport participation in young people with gender dysphoria
- Serum sclerostin concentration is associated with specific adipose, muscle and bone tissue markers in lean adolescent females with increased physical activity
- Validation of a continuous measure of cardiometabolic risk among adolescents
- Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism
- The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A
- Switching from conventional therapy to burosumab injection has the potential to prevent nephrocalcinosis in patients with X-linked hypophosphatemic rickets
- Case Reports
- Asymptomatic pituitary apoplexy induced by corticotropin-releasing hormone in a 14 year-old girl with Cushing’s disease
- Two patients from Turkey with a novel variant in the GM2A gene and review of the literature
- Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate
- Pediatric diabetic ketoacidosis presenting with Streptococcus intermedius brain abscess
Artikel in diesem Heft
- Frontmatter
- Review Article
- Provocative growth hormone testing in children: how did we get here and where do we go now?
- Original Articles
- Mental and somatic health in university students with type 1 diabetes: new results from DiaSHoT18, a cross sectional national health and well-being survey
- Prevalence of elevated liver enzymes and their association with type 2 diabetes risk factors in children
- What is the relationship between obesity and new circadian rhythm parameters in Turkish children and adolescents? A case-control study
- Body fat distribution in trunk and legs are associated with cardiometabolic risk clustering among Chinese adolescents aged 10–18 years old
- Is overweight/obesity a risk factor for atopic allergic disease in prepubertal children? A case–control study
- Importance of individualizing treatment decisions in girls with central precocious puberty when initiating treatment after age 7 years or continuing beyond a chronological age of 10 years or a bone age of 12 years
- Blood pressure dynamics after pubertal suppression with gonadotropin-releasing hormone analogs followed by estradiol treatment in transgender female adolescents: a pilot study
- Levels of physical activity and barriers to sport participation in young people with gender dysphoria
- Serum sclerostin concentration is associated with specific adipose, muscle and bone tissue markers in lean adolescent females with increased physical activity
- Validation of a continuous measure of cardiometabolic risk among adolescents
- Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism
- The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A
- Switching from conventional therapy to burosumab injection has the potential to prevent nephrocalcinosis in patients with X-linked hypophosphatemic rickets
- Case Reports
- Asymptomatic pituitary apoplexy induced by corticotropin-releasing hormone in a 14 year-old girl with Cushing’s disease
- Two patients from Turkey with a novel variant in the GM2A gene and review of the literature
- Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate
- Pediatric diabetic ketoacidosis presenting with Streptococcus intermedius brain abscess
