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Hypophosphatemic Rickets and Hyperparathyroidism

Hypophosphataemic Rickets and Hyperparathyroidism


Presentation

  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • Rickets of the spine or pelvis, dental enamel defects, and tetany that occur in dietary vitamin D deficiency are rarely present in hypophosphatemic rickets. Patients with HHRH may present with nephrolithiasis and/or nephrocalcinosis.[msdmanuals.com]
  • PRESENTATION AND CLINICAL FEATURES Hypocalcaemia may be an incidental finding, or it can result in symptoms such as paraesthesia or cramps.[adc.bmj.com]
  • A 6-month-old white girl presented with a 2-day history of fever and respiratory symptoms. Initially, she was admitted with a diagnosis of respiratory syncytial virus bronchiolitis.[consultant360.com]
  • Rickets and/or osteomalacia is the presenting feature. Mild forms may present with hypercalciuria and nephrolithiasis without bone disease.[boneandspine.com]
Short Stature
  • stature Skeletal: rickets bone pain Chest Ribs Sternum Clavicles And Scapulae: rachitic rosary Skeletal Limbs: bowing of lower extremities Endocrine Features: parathyroid hyperplasia, benign[malacards.org]
  • An outstanding feature of familial hypophosphatemic rickets is disproportionate short stature. Adults show osteomalacic changes and calcification of entheses and joint capsules.[boneandspine.com]
  • stature, bowing of lower limbs (esp at knees causing genu varum ) & rachitic changes in the long bones; - ht at initial dx is usually - coxa vara is also common in untreated patients; - in some affected patients, the disorder is manifested only by a[wheelessonline.com]
  • Such crystals, on migration to the papilla get precipitated as stones. [6] Complications An outstanding feature of familial hypophosphatemic rickets is short stature. [6, 7] The short stature associated with this condition is disproportionate, resulting[emedicine.medscape.com]
Physician
  • […] coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician[books.google.com]
  • Trans Assoc Am Physicians. 1977 ;90: 228 - 238 . Google Scholar Medline[doi.org]
  • This twisting or bending of the bones has been known to physicians since antiquity and, as with many diseases, was gradually found to encompass more than a single etiology.[emedicine.medscape.com]
  • Years Published 1987, 1988, 1989, 1992, 1993, 1994, 1995, 2000, 2005, 2010, 2013, 2016 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical[rarediseases.org]
  • Physicians currently rely on a combination of clinical, radiological, and laboratory parameters, including growth velocity, orthopedic measures of leg bowing, semiquantitative evaluation of rickets on radiographs, and serum ALP levels; however, none of[karger.com]
Thyroid Nodule
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID[books.google.com]
Goiter
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND[books.google.com]
Swelling
  • […] calcification does not form resulting in build-up of maturing cartilage cells Also occurs in shafts so that osteoid production elevates periosteum Clinical findings Irritability Bone pain Tenderness Craniotabes Rachitic rosary Bowed legs Delayed dentition Swelling[learningradiology.com]
Macrocephaly
  • Symptoms via clinical synopsis from OMIM: 58 Head And Neck Head: macrocephaly frontal bossing Laboratory Abnormalities: hypophosphatemia hypercalcemia elevated serum parathyroid hormone (pth) translocation of chromosomes 9 and 13 Genitourinary Kidneys[malacards.org]
  • Symptoms of Hypophosphatemic rickets and hyperparathyroidism Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Frontal bossing Macrocephaly Abnormality of metabolism/homeostasis Elevated circulating parathyroid[familydiagnosis.com]
Frontal Bossing
  • Symptoms via clinical synopsis from OMIM: 58 Head And Neck Head: macrocephaly frontal bossing Laboratory Abnormalities: hypophosphatemia hypercalcemia elevated serum parathyroid hormone (pth) translocation of chromosomes 9 and 13 Genitourinary Kidneys[malacards.org]
  • Symptoms of Hypophosphatemic rickets and hyperparathyroidism Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Frontal bossing Macrocephaly Abnormality of metabolism/homeostasis Elevated circulating parathyroid[familydiagnosis.com]
  • In addition to her respiratory findings, widespread signs of rickets were found--ie, frontal bossing, rachitic rosary, widening of the wrists, and double maleoli.[consultant360.com]
  • […] and epiphyseal center Cortical spurs projecting at right angles to metaphysis Coarse trabeculation (not the ground-glass pattern found in scurvy) Periosteal reaction may be present Deformities common Bowing of long bones Molding of epiphysis Fractures Frontal[learningradiology.com]
  • On examination, she had a short stature (146 cm), frontal bossing of the cranium, bulging of the costochondral junctions (rachitic rosary) and bowing of the lower limbs.[pubs.sciepub.com]
Stroke
  • Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children.[books.google.com]
  • However, there are significant risks associated with estrogen-progestin therapy, including increased risks of breast cancer, stroke, deep vein thrombosis, and coronary heart disease.[enotes.tripod.com]

Workup

  • (See Etiology and Workup.) In XLH patients, the severe hypophosphatemia ( 2.5 mg/dL) is associated with elevated serum alkaline phosphatase.[emedicine.medscape.com]
  • The patient's 18-month-old sister had a history of delayed gross motor milestones and also had frontal bossing; however, a workup had never been done, nor had the child been treated.[consultant360.com]
Phosphate Decreased
  • , decreased alkaline phosphatase, decreased PTH ML 3 Select Answer to see Preferred Response PREFERRED RESPONSE 1 (OBQ04.95) The active form of vitamin-D (calcitriol) is produced by the enzyme 1-alpha-hydroxylase.[orthobullets.com]
Abnormal Thyroid Function Test
  • THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL[books.google.com]

Treatment

  • See also the following treatment articles: Treatments for Rickets Treatments for Hyperparathyroidism Causes See also causal information: Causes of Hypophosphatemic rickets Causes of Hypophosphatemia Causes of Rickets Causes of Hyperparathyroidism Similar[familydiagnosis.com]
  • […] level mimics aspects of the normal response to hyperphosphatemia and implicate alpha-Klotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they also have implications for the pathogenesis and treatment[ncbi.nlm.nih.gov]
  • The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension.[scienceopen.com]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]

Prognosis

  • Prognosis With consistent treatment, prognosis is good and skeletal deformities can be normalized, but growth rates usually remain subnormal. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis of Hypoph0sphatemic Rickets Apart from the short stature of most affected adults, the prognosis for a normal lifespan and normal health is good. Abnormal dentine formation causes late dentition and spontaneous abscess formation.[boneandspine.com]
  • […] alkaline phosphatase (TNSALP) gene mutation that leads to the accumulation of pyrophosphate pyrophosphate inhibits bone mineralization Pathogenesis impaired mineralization of osteoid (osteomalacia) and/or cartilage at the epiphyseal plates (rickets) Prognosis[medbullets.com]
  • Concomitant use of calcitriol dampens this effect. 24 Prognosis Affected persons have a normal life span. With early diagnosis and good compliance with therapy, deformities can be minimized.[consultant360.com]
  • Prognosis Correction of acute hypophosphataemia tends to leave no long-term complications but failure to recognise and treat an acute, severe situation can lead to fatality.[patient.info]

Etiology

  • ., X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets Etiology vitamin D deficiency hypophosphatemia chronic kidney disease e.g., metabolic acidosis and decreased 1,25-dihydroxyvitamin D synthesis renal tubular acidosis[medbullets.com]
  • (See Etiology and Treatment.)[emedicine.medscape.com]
  • Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity.[orpha.net]
  • (A discussion of the etiology and diagnostic approach to tumor induced osteomalacia.) Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[endocrinologyadvisor.com]
  • […] this question is for PEAK Premium Subscribers only Sorry, this question is for PEAK Premium Subscribers only Sorry, this question is for PEAK Premium Subscribers only (OBQ13.38) Low serum phosphate and normal calcium levels are found in what common etiology[orthobullets.com]

Epidemiology

  • Summary Epidemiology It is the most common form of hereditary hypophosphatemia with a prevalence of approximately 1/ 20,000. The disease affects both sexes equally.[orpha.net]
  • (Rickets secondary to vitamin D defiency) Introduction Clinical definition osteomalacia a condition due to defective mineralization of osteoid rickets a condition due to defective mineralization of carti lage in the epiphyseal growth plates Epidemiology[medbullets.com]
  • Epidemiology Hypophosphataemia is rare in the general population but relatively common in hospitalised patients (2.2-3.1%) and higher still in those on intensive care units (28.8-33.9%), those with sepsis (65-80%), those with chronic alcoholism (2.5-30.4%[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • This edition has been thoroughly revised by world-renowned contributors to reflect recent developments in renal pathophysiology.[books.google.com]
  • Introduction A defect in mineralization of osteoid matrix caused by inadequate calcium and phosphate prior to closure of physis known as rickets after physeal closure called osteomalacia Pathophysiology disruption of calcium/phosphate homeostasis poor[orthobullets.com]
  • […] diphosphoglycerate (2,3-DPG) causing a left shift in the oxyhemoglobin curve. [ citation needed ] Other rarer causes include: Certain blood cancers such as lymphoma or leukemia Hereditary causes Liver failure Tumor-induced osteomalacia [ citation needed ] Pathophysiology[en.wikipedia.org]
  • Hypophosphatasia Hypophosphatasia has a totally different pathophysiology from the other kinds of osteomalaica. It is caused by deficiency in the enzyme alkaline phosphatase.[courses.washington.edu]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Management and treatment Treatment aims at improving growth, bone or joint pain, and preventing skeletal deformities caused by rickets. Patients do not respond to vitamin D supplementation.[orpha.net]
  • Prevention. A proper diet that includes vitamin D–fortified milk is usually sufficient to prevent rickets. Ordinary milk contains adequate amounts of calcium but is a poor source of vitamin D.[medical-dictionary.thefreedictionary.com]
  • Phosphorus restriction prevents parathyroid gland growth. High phosphorus directly stimulates PTH secretion in vitro. J Clin invest 97: 2534-2540, 1996.[pubs.sciepub.com]
  • The usual medication regimen must be carefully monitored to prevent excess blood or urinary calcium levels. The approach does not completely cure the disorder.[rarediseases.org]

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