&lt;p&gt;PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country&lt;/p&gt;

Forero-Delgadillo, Jessica María; Cleves, Daniela; Ochoa, Vanessa; Londoño-Correa, Hernando; Restrepo, Juan Guillermo; Nastasi-Catanese, José Antonio; Pachajoa, Harry

doi:10.2147/tacg.s232448

Cited by 2 publications

(4 citation statements)

References 21 publications

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“…This rare condition is reported to have an incidence of 1 in 20 000 births. Presently, > 460 mutations related to XLH have been stated in the literature [11].…”

Section: Epidemiology Of X-linked Hypophosphatemiamentioning

confidence: 99%

“…At an early age with XLH, a radiograph of a wrist/knee shows classical radiological alterations of rickets-widening, cupping, and fraying of the metaphysis. Generally, radiological screening shows deformities principally in the lower limbs, metaphyseal widening, poor definition of bone contours, rachitic rosary, and frontal bossing 11 . Malformations in flexion of the distal diaphysis, radii, ulnas, and tibias with dorsal column worsening were also observed.…”

Section: Introductionmentioning

confidence: 99%

“…Approximately 90% of XLH rickets are associated with PHEX gene mutations. The PHEX gene encodes a metalloprotease, a member of the M13 family of zinc-dependent proteases of the cell membrane type II, and is expressed in the bone, teeth, lung, ovary, testes, and parathyroid gland 11 . XLH, due to PHEX mutations, follows an X-linked dominant inheritance pattern.…”

Section: Introductionmentioning

confidence: 99%

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X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Abdullah,

Mahwi,

Mohamad Salih Saeed

et al. 2023

Horm Metab Res

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X-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. The patient was assessed for sociodemographic, hematological, and biochemical parameters together with a genetic assessment. A DEXA scan and X-ray were done to determine the abnormalities and deformities of joints and bones despite clinical examination by an expert physician. All imaging, laboratory parameters, and the genetic study confirmed the diagnosis of XLH. A detailed follow-up of his condition was performed after the use of phosphate tablets and other treatments. X-linked hypophosphatemia needs a good assessment, care, and follow up through a complementary medical team including several specialties. Phosphate tablets in adulthood significantly affects clinical and physical improvement and prevention of further skeletal abnormality and burden on daily activity. The patients should be maintained with an adequate dose of phosphate for better patient compliance. More awareness is needed in society and for health professionals when conducting medical checkups during the presence of stress fractures, frequent dental and gum problems, rickets, short stature, or abnormality in the skeleton or walking to think of secondary causes such as hypophosphatemia. Further investigations including a visit to a specialist is imperative to check for the primary cause of these disturbances.

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“…This rare condition is reported to have an incidence of 1 in 20 000 births. Presently, > 460 mutations related to XLH have been stated in the literature [11].…”

Section: Epidemiology Of X-linked Hypophosphatemiamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Abdullah,

Mahwi,

Mohamad Salih Saeed

et al. 2023

Horm Metab Res

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“…The mechanism by which mutations in PHEX gene increase FGF23 levels is still unclear, although both PHEX and FGF23 are derived from osteocytes [ 9 ]. The PHEX gene has a wide variety of mutations, with over 615 recorded to date [ 10 , 11 , 12 , 13 , 14 ]. Reported mutations are diverse and include frameshift mutations, missense, nonsense mutations, intronic splice-site mutations, and deletions; these are distributed throughout the gene with no hot spot regions.…”

Section: Introductionmentioning

confidence: 99%

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review

Jurcă

Iuhas

Kozma

et al. 2022

Genes

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X-linked hypophosphatemia (XLH) or vitamin D-resistant rickets (MIM#307800), is a monogenic disorder with X-linked inheritance. It is caused by mutations present in the Phosphate Regulating Endopeptidase Homolog X-Linked (PHEX) gene responsible for the degradation of the bone-derived hormone fibroblast growth factor 23 (FGF23) into inactive fragments, but the entire mechanism is currently unclear. The inactivation of the gene prevents the degradation of FGF23, causing increased levels of FGF23, which leads to decreased tubular reabsorbtion of phosphorus. Clinical aspects are growth delay, limb deformities, bone pain, osteomalacia, dental anomalies, and enthesopathy. Laboratory evaluation shows hypophosphatemia, elevated alkaline phosphatase (ALP), and normal serum calcium levels, whereas parathormone (PTH) may be normal or increased and FGF23 greatly increased. Conventional treatment consists of administration of oral phosphate and calcitriol. Treatment with Burosumab, a monoclonal antibody that binds to FGF23, reducing its activity, was approved in 2018. Methods. We describe a case of two siblings, a girl and a boy, diagnosed with XLH, monitored by the Genetic Department of the County Emergency Clinical Hospital since 2019. The clinical picture is suggestive for XLH, both siblings exhibiting short stature, lower limb curvature, bone pain, marked walking weakness, and fatigue. Radiological aspects showed marked deformity of the lower limbs: genu varum in the girl, genu varum and valgum in the boy. Laboratory investigations showed hypophosphathemia, hyperphosphaturia, elevated ALP, normal PTH, and highly increased FGF23 in both. DNA analysis performed on the two siblings revealed a nonsense mutation in exone 5 of the PHEX gene: NM_000444.6(PHEX):c.565C > T (p.Gln189Ter). Results. At the age of 13½ on 7 June 2021, the two children started treatment with Burosumab in therapeutic doses and were monitored clinically and biochemically at regular intervals according to the protocol established by the Endocrinology Commission of the Romanian Health Ministry. Conclusions. The first results of the Burosumab treatment in the two siblings are extremely encouraging and suggest a favorable long-term evolution under this treatment.

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<p>PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country</p>

Cited by 2 publications

References 21 publications

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review

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