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

ABSTRACT: 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.

SUBMITTER: Abdullah SJ

PROVIDER: S-EPMC10562047 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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

Abdullah Shadan Jabbar SJ Mahwi Taha Othman TO Mohamad Salih Saeed Areewan A Abdulateef Darya Saeed DS Rahman Heshu Sulaiman HS Ahmed Shaho Fatah SF Abdulqader Sarkan Ahmed SA

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 20231009 10

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 biochemi ...[more]

PMID: 37813097

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Project description: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.

Project description:The International Headache Society (IHS) defines ophthalmoplegic migraine (OM) as recurrent attacks of headache with migrainous characteristics, associated with paresis of one or more ocular cranial nerves (commonly the third cranial nerve), and in the absence of any demonstrable intracranial lesion other than MRI changes within the affected nerve. According to the IHS criteria, it is diagnosed when at least two attacks with migraine-like headaches are accompanied with, or followed within 4 days of onset by, paresis of one or more of the third, fourth or sixth cranial nerves. Parasellar, orbital fissure and posterior fossa lesions should be ruled out by appropriate investigations. It is unlikely that OM is a variant of migraine, since the headache often lasts for a week or more and there is a latent period of up to 4 days from the onset of headache to the onset of ophthalmoplegia. Furthermore, in some cases MRI shows gadolinium uptake in the cisternal part of the affected cranial nerve and this suggests that the condition may be a recurrent demyelinating neuropathy. In general, patients demonstrated a: (1) prolonged time for symptom resolution to occur (median time 3 weeks); (2) tendency for recurrent episodes to have more severe and persistent nerve involvement; (3) evidence of permanent neurological sequelae with recurrent episodes (30% of patients); (4) rapid improvement and shortened duration with corticosteroid therapy and; (5) transient, reversible MRI contrast enhancement of the affected cranial nerve (86% of patients). Different pathogenetic mechanisms, which include compressive, ischemic and inflammatory, have been suggested for OM. Here, a 15-year-old Ethiopian with recurrent attacks of headache and third nerve palsy is presented. The subsequent discussion focuses on current evidences with regard to the clinical characteristics, possible pathogenetic mechanisms and treatment. Finally, a brief discussion of the situation in Africa will be presented.

Dataset Information

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

Publications

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

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