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Hypocalcemic Vitamin D-Dependent Rickets

VDDI


Presentation

  • 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]
  • Progressively, patients present with rachitic deformities (bowed legs, rachitic rosary...). Enamel hypoplasia is occasionally observed.[orpha.net]
  • 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]
  • 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.[merckmanuals.com]
Developmental Delay
  • delay, and orthopedic abnormalities.[aafp.org]
  • Patients with Albright’s hereditary osteodystrophy have a phenotype of truncal obesity, growth retardation, brachydactyly, short neck, heterotopic calcification, dental defects and developmental delay.[clinicaladvisor.com]
Dental Caries
  • Phenotype Growth retardation, muscle weakness, convulsion for hypocalcemia, bone pain at the lower extremities that delays their development of walking, dental caries or hypoplasia of the teeth, scalp and total alopecia, mild deafness, congenital rickets[iofbonehealth.org]
  • caries or teeth hypoplasia Pathophysiology Type I caused by defect in renal 25-(OH)-vitamin D1 alpha-hydroxylase prevents conversion of inactive form of vitamin D to active form responsible gene 12q14 Type II caused by a defect in intracellular receptor[orthobullets.com]
  • Dental deformities include delayed formation of teeth, enamel hypoplasia, and increased incidence of cavities in the teeth (dental caries).[patient.info]
Hypertension
  • Campese examines the contribution of sodium, calcium, and neurogenic factors in the pathogenesis of essential hypertension. The immunological aspects of renal disease are clearly discussed by Dr. Couser in Chapter 7.[books.google.com]
  • Manifestations of sever hypocalcemia: seizures, muscle contractures, screaming for no apparent reason, glottis spasm, tremor, signs of intracranial hypertension (in newborns).[doctortipster.com]
  • Signs of hypercalcaemia are muscle and bone pain, muscle weakness, confusion, dehydration, anorexia, fatigue, nausea and vomiting, constipation, polyuria, sweating, headache, polydipsia, hypertension and somnolence.[medicines.org.uk]
Osteoporosis
  • Adams Academic Press, ١٢‏/٠٥‏/٢٠١١ - 2144 من الصفحات Vitamin D, a steroid hormone, has mainly been known for its effects on bone and osteoporosis.[books.google.com]
  • Classic radiological signs of rickets are skeletal anomalies of the growth plates and metaphyseal bones, osteomalacia, and osteoporosis. Biochemical findings are severe hypocalcemia and moderate hypophosphatemia.[orpha.net]
  • Also used in conjunction with calcium in the management and prevention of primary or corticosteroid-induced osteoporosis.[drugbank.ca]
  • .- ) osteoporosis ( M80.- ) Disorders of phosphorus metabolism and phosphatases Approximate Synonyms Hereditary vitamin d dependent rickets type 2 Vitamin d-dependent rickets, type 2 ICD-10-CM E83.32 is grouped within Diagnostic Related Group(s) (MS-DRG[icd10data.com]
  • Pagina 156 - Effect of intermittent cyclical etidronate therapy on bone mass and fracture rate in women with postmenopausal osteoporosis. N Engl ] Med 1990:332:1265-71. 34. Watts NB, Harris ST, Genant HK et al.[books.google.it]
Enlargement of the Wrists
  • […] of the wrists, enlargement of the ankles, and subperiosteal erosions due to secondary hyperparathyroidism.[iofbonehealth.org]
  • Rickets is a disease characterized by bone deformities, enlargement of the wrists and costochondral junctions, decreased muscle tone and, in infants, craniotabes and delayed closure of the fontanelle.[news-medical.net]
Muscle Hypotonia
  • […] bone resorption bone resorption leads to increased alkaline phosphatase levels Clinical findings rachitic rosary (enlargement of costochondral junction) bowing of knees codfish vertebrae retarded bone growth (widened osteoid seams, physeal cupping) muscle[orthobullets.com]
Agitation
  • Gain new insight into today’s hottest topics, including sleep-disordered breathing, cuffed endotracheal tubes, premedication, emergence agitation, postoperative vomiting, and new airway devices.[books.google.com]

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]
  • Therefore, a serum ionized calcium should be done to confirm the diagnosis before pursuing an extensive workup regarding the etiology of hypocalcemia.[endocrinologyadvisor.com]
Parathyroid Hormone Increased
  • In the later course, levels are, slightly low because parathyroid hormone increases renal excretion. Very high or very low concentrations suggest renal rickets. Parathyroid hormone Normal values vary with age and method: 1–6 pmol/L.[boneandspine.com]

Treatment

  • Management and treatment Treatment aims at improving growth and restoring normal serum levels of calcium, phosphorus, alkaline phosphatase, and parathyroid hormone and at healing/preventing skeletal deformities.[orpha.net]
  • Patients with DDR-1 should receive life long replacement treatment with 1α hydroxyvitamin D or calcitriol.[bone-abstracts.org]
  • […] target organs, and general physiological effects *Second volume is more clinically oriented addressing deficiency problems (including diagnosis, interactions in the endocrine system, and involvement in malignancies) *Further sections on emerging uses for treatments[books.google.com]
  • Treatment with calcitriol (i.e. 1,25(OH) 2 D) restored normocalcaemia.[endocrine-abstracts.org]
  • […] syndrome (with treatment of acidosis).[drugbank.ca]

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]
  • Prognosis Children with rickets are likely to suffer from stunted growth, bone abnormalities and bone pain, however these symptoms often disappear with treatment.[medical-dictionary.thefreedictionary.com]

Etiology

  • 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]
  • ., 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]
  • Therefore, a serum ionized calcium should be done to confirm the diagnosis before pursuing an extensive workup regarding the etiology of hypocalcemia.[endocrinologyadvisor.com]

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]
  • 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]
  • Based on the known epidemiology of the resurgence of vitamin D-deficient rickets in the United States, the appropriate approach would presently be to increase supply of vitamin D to exclusively-breastfed infants with darkly-pigmented skin, but also to[news-medical.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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • […] 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]
  • Pathophysiology and Symptoms of Rickets Image : “Diagram of longitudinal bone growth.” by OpenStax College – Anatomy & Physiology, Connexions Web site. , Jun 19, 2013.[lecturio.com]
  • Pathophysiology of Rickets Endochondral ossification is the process by which cartilage is transformed into bone. During these processes, there is extensive deposition of new unmineralized bone tissue, known as osteoid.[boneandspine.com]

Prevention

  • Management and treatment Treatment aims at improving growth and restoring normal serum levels of calcium, phosphorus, alkaline phosphatase, and parathyroid hormone and at healing/preventing skeletal deformities.[orpha.net]
  • One of the most important steps is to identify the appropriate dose of preventive product. For vitamin D, children should receive the equivalent of 200–400 IU per day to prevent rickets.[news-medical.net]
  • Also used in conjunction with calcium in the management and prevention of primary or corticosteroid-induced osteoporosis.[drugbank.ca]
  • 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]
  • Normalization of RAAS by calcitriol may conceivably prevent adverse cardiovascular outcomes.[miami.pure.elsevier.com]

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