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Start Over Descriptor "familial hyperphosphatemic tumor calcinosis" Topic hemodialysis
2 results on '"familial hyperphosphatemic tumor calcinosis"'

1. An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.

Author

Lingappa, Lokesh, Ichikawa, Shoji, Gray, Amie K., Acton, Dena, Evans, Michael J., Madarasu, Rajsekara Chakravarthi, Kekunnaya, Ramesh, and Siddaiahagari, Sirisharani

Subjects
*AMINES, *BLINDNESS, *FIBROBLASTS, *GROWTH factors, *HEMODIALYSIS, *GENETIC mutation, *NEUROLOGIC manifestations of general diseases, *SEQUENCE analysis, *CALCINOSIS, *HYPERPHOSPHATEMIA, *THERAPEUTICS
Abstract

Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis. We report a child with hyperphosphatemia who presented with multiple episodes of neurologic dysfunction involving lower motor neuron facial nerve palsy along with sequential visual loss. He also had an episode of stroke. There was an extensive metastatic calcification of soft tissue and vasculature. Hyperphosphatemia with normal serum alkaline phosphatase, calcium, parathyroid hormone, and renal function was noted. He was managed with hemodialysis and sevelamer (3 months) without much success in reducing serum phosphate level, requiring continuous ambulatory peritoneal dialysis (3 years). Intact fibroblast growth factor 23 (FGF23) was undetectable, with C-terminal FGF23 fragments significantly elevated (2575 RU/ml, normal <180 RU/ml). Sequencing demonstrated homozygous c.486C >A (p.N162K) mutation in FGF23 exon 3, confirming the diagnoses of primary FGF23 deficiency, the first case to be reported from India. [ABSTRACT FROM AUTHOR]

Published
2019
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2. An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis

Author

Rajsekara Chakravarthi Madarasu, Sirisharani Siddaiahagari, Shoji Ichikawa, Amie K. Gray, Ramesh Kekunnaya, Dena Acton, Michael Evans, and Lokesh Lingappa

Subjects
Fibroblast growth factor 23, medicine.medical_specialty, medicine.medical_treatment, Case Report, Sevelamer, urologic and male genital diseases, Gastroenterology, lcsh:RC346-429, 03 medical and health sciences, Hyperphosphatemia, 0302 clinical medicine, Continuous ambulatory peritoneal dialysis, Calcinosis, Internal medicine, Medicine, 030212 general & internal medicine, sevelamer, lcsh:Neurology. Diseases of the nervous system, Metastatic calcification, business.industry, familial hyperphosphatemic tumor calcinosis, medicine.disease, stomatognathic diseases, sudden vision loss, Tumoral calcinosis, Neurology (clinical), Hemodialysis, business, 030217 neurology & neurosurgery, medicine.drug, primary FGF23 deficiency
Abstract

Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis. We report a child with hyperphosphatemia who presented with multiple episodes of neurologic dysfunction involving lower motor neuron facial nerve palsy along with sequential visual loss. He also had an episode of stroke. There was an extensive metastatic calcification of soft tissue and vasculature. Hyperphosphatemia with normal serum alkaline phosphatase, calcium, parathyroid hormone, and renal function was noted. He was managed with hemodialysis and sevelamer (3 months) without much success in reducing serum phosphate level, requiring continuous ambulatory peritoneal dialysis (3 years). Intact fibroblast growth factor 23 (FGF23) was undetectable, with C-terminal FGF23 fragments significantly elevated (2575 RU/ml, normal A (p.N162K) mutation in FGF23 exon 3, confirming the diagnoses of primary FGF23 deficiency, the first case to be reported from India.

Published
2019

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