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Hypocalcemic Vitamin D-Dependent Rickets Type 1B

VDDI


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]
  • Clinically, it presents as early onset rickets and severe hypotonia. Presenting problem: A 6-year-old Caucasian girl was referred to our Clinic after a 6 months history of hypotonia.[bone-abstracts.org]
  • The proband, at 21 months of age presented with bilateral pes plano valgus and flexion deformity of the knees in association with hypocalcaemia, and his sister presented at 6 weeks of age with a hypocalcaemic seizure.[endocrine-abstracts.org]
  • Common presentation of the disorder is total body alopecia and onset of rickets during the second half of the first year of life. Patients may display progressive rachitic bone changes, hypocalcemia and secondary hyper-parathyroidism.[ncbi.nlm.nih.gov]
  • More than 700 full-color high-quality photographs as well as carefully chosen figures, algorithms, and tables to illustrate essential concepts, nuances of clinical presentation and technique, and decision making provide a visual grasp and better understanding[books.google.com]
Difficulty Walking
  • walking Myopathy : muscle weakness, spasms, and/or cramps Bone deformity only in very severe cases of osteomalacia Symptoms of hypocalcemia (see disorders of calcium balance ) Rickets Occurs in children Bone deformities Bending of primarily the long[amboss.com]
  • walking; Difficulty standing NEUROLOGIC: [Central nervous system]; Delayed motor development; Seizures due to hypocalcemia; [Behavioral/psychiatric manifestations]; Irritability ENDOCRINE FEATURES: Secondary hyperparathyroidism LABORATORY ABNORMALITIES[genome.jp]
Kinky Hair
  • .-) E83.0 Disorders of copper metabolism E83.00 Disorder of copper metabolism, unspecified E83.01 Wilson's disease E83.09 Other disorders of copper metabolism Inclusion term(s): Menkes' (kinky hair) (steely hair) disease E83.1 Disorders of iron metabolism[icd10coded.com]
Carpopedal Spasm
  • Features of severe hypocalcemia (Chvostek's sign and carpopedal spasms) were positive. Alopecia or features of nutritional deficiency were not observed.[sjkdt.org]
  • Physical findings of hypocalcemia include the Chvostek sign (twitching of muscles controlled by the facial nerve with light tapping of the cheek) and the Trousseau sign (carpopedal spasm after maintaining blood pressure midway between the systolic and[clinicaladvisor.com]
Enlargement of the Wrists
  • […] of the wrists; Enlargement of the ankles; Subperiosteal erosions due to secondary hyperparathyroidism MUSCLE, SOFT TISSUE: Hypotonia; Muscle weakness; Difficulty walking; Difficulty standing NEUROLOGIC: [Central nervous system]; Delayed motor development[genome.jp]

Workup

  • Laboratory workup revealed hypocalcemia, hypophosphatemia, marked elevation of alkaline phosphatase and parathormone, with normal levels of 25-hydroxyvitamin D and low levels of 1,25 dihydroxyvitamin D.[bone-abstracts.org]
  • (See Etiology and Workup.) In XLH patients, the severe hypophosphatemia ( 2.5 mg/dL) is associated with elevated serum alkaline phosphatase.[emedicine.medscape.com]
  • Methods We describe the patient’s clinical presentation, biochemical workup, and clinical course.[ccmbm.com]
  • Therefore, a serum ionized calcium should be done to confirm the diagnosis before pursuing an extensive workup regarding the etiology of hypocalcemia.[endocrinologyadvisor.com]

Treatment

  • Patients with DDR-1 should receive life long replacement treatment with 1α hydroxyvitamin D or calcitriol.[bone-abstracts.org]
  • The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). Clin Endocrinol (Oxf) 1993;39(2):229-37.[sjkdt.org]
  • Treatment with calcitriol (i.e. 1,25(OH) 2 D) restored normocalcaemia.[endocrine-abstracts.org]
  • Treatment includes substitution of vitamin D, possibly in addition of calcium or phosphate.[labor-lademannbogen.de]
  • These include the NIH Post-menopausal Estrogen/Progestin Interventions Trial (PEPI), Merck’s Fracture Intervention Trial (FIT), Lilly’s Multiple Outcomes of Raloxifene Intervention (MORE), and Lilly’s registration trial of recombinant PTH(1-34) in the treatment[books.google.com]

Prognosis

  • Prognosis With treatment, prognosis is good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] 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]
  • The prognosis for the child with hypocalcemia depends on its etiology. When known, information about the disorder, its cause, treatment, natural history, importance to the family, and prognosis should be fully conveyed to the family of the patient.[clinicaladvisor.com]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • ., 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 due to inactivating mutations in the CYP27B1 gene (12q14) that codes for 1-alpha-hydroxylase which converts the vitamin D precursor calcidiol to calcitriol, the vitamin D active metabolite.[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence at birth is estimated at around 1/2,000. The disease is more frequent in the French Canadian population in the Saguenay region of Quebec.[orpha.net]
  • Vitamin D-resistant rickets type II Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological[csbg.cnb.csic.es]
  • License: CC BY-SA 3.0 Definition and Epidemiology of Rickets According to standard textbooks, rickets is defined as the imperfection, distortion and softening of the bones due to deficiency of vitamin D.[lecturio.com]
  • (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]
Sex distribution
Age distribution

Pathophysiology

  • From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career.[books.google.com]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • […] conversion of the inactive form of vitamin D to the active form: 1,25‑dihydroxyvitamin D3 ( calcitriol ) Vitamin D -dependent rickets type 2 ( autosomal-recessive inheritance): congenital defect in the vitamin D receptor References: [1] [2] [3] [4] [5] [6] Pathophysiology[amboss.com]
  • .  PATHOPHYSIOLOGY Decrease in extracellular Ca2 The membrane potential on the outside becomes less negative Less amount of depolarisation is required to initiate action potential Increased excitability of muscle and nerve tissue 15.[slideshare.net]
  • Arch Biochem Biophys 460:213–217 PubMedCentral CrossRef PubMed Google Scholar Cozzolino M, Ciceri P (2009) Pathophysiology of calcium and phosphate metabolism impairment in chronic kidney disease.[link.springer.com]

Prevention

  • Prevention Rickets can be prevented by consuming enough vitamin D. Estimating the exact amount vitamin D needs of each human is difficult because it is hard to measure how much of the vitamin is synthesized in the skin via sunlight.[medicalnewstoday.com]
  • Also used in conjunction with calcium in the management and prevention of primary or corticosteroid-induced osteoporosis.[drugbank.ca]
  • (March 2011) Centers for Disease Control and Prevention. Vitamin D Status, United States, 2001-2006. Available online at . Accessed March 2013. Holick MF et al.[labtestsonline.it]
  • Prevention of Rickets Adequate exposure to sunlight holds the key in prevention of rickets. In order to avoid congenital defects, the mother needs to have sufficient sources of vitamin D from the diet as well as on exposure to the sunlight.[lecturio.com]
  • Am J Clin Nutr 61:638–645 Google Scholar Holick MF (2004) Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease.[link.springer.com]

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