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]

Saudi Arabia Alzahrani et al. (2010) described a 23-year-old woman who presented at the age of 16 years with significant growth retardation, bone pain and severe deformities of lower limbs. [cags.org.ae]

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]

Bone pain was present in 31% of patients. [omicsonline.org]

Introduction Nutritional rickets is present more commonly in Africa, the Indian subcontinent, Asia, Latin America and the Middle East (1). [ijp.mums.ac.ir]

• Poor Growth

  Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia [endocrine-abstracts.org]

  Clinical description The disease manifests within the first year of life with hypotonia, tetany, seizures, muscle weakness, and poor growth. Progressively, patients present with rachitic deformities (bowed legs, rachitic rosary...). [orpha.net]

  Snapshot A 6-year-old boy is brought to his pediatrician by his parents due to poor growth, weakness, and abnormal gait. On physical exam, there is bowing of the legs and tenderness upon palpation of the lower extremity. [medbullets.com]

  Clinical Synopsis: INHERITANCE: Autosomal recessive GROWTH: [Other]; Failure to thrive; Poor growth; Growth retardation HEAD AND NECK: [Head]; Frontal bossing; [Teeth]; Delayed tooth eruption; Enamel hypoplasia CHEST: [Ribs, sternum, clavicles, and scapulae [genome.jp]

• 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]

  Severely affected patients may have difficulty walking and may have a waddling gait or a change in gait, with proximal muscle weakness and marked adductor spasm. [patient.info]

• Muscle Hypotonia

  […] most deformities Hereditary Vitamin D-Dependent Rickets (Type I and II) Rare disorder Clinical features similar to Vitamin D-Deficient Rickets but more severe Clinical characteristics Type I joint pain/deformity, hypotonia, muscle weakness, growth failure [orthobullets.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]

  Presentations in the infants included craniotabes, wide skull sutures, rachitic rosaries, enlargement of the wrists and ankles, tetany and hypocalcemic convulsions. In three cases rickets had been suspected from antenatal X-rays. [vitamindwiki.com]

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]

• Phosphate Decreased

  Review Topic QID: 2930 1 Low serum phosphate, elevated alkaline phosphatase, elevated PTH 2 Low serum phosphate, elevated alkaline phosphatase, normal PTH 3 Low serum phosphate, elevated alkaline phosphatase, decreased PTH 4 Elevated serum phosphate, [orthobullets.com]

[…] syndrome (with treatment of acidosis). [drugbank.ca]

Management and Treatment of the Disease Approach to treatment The severity, symptoms and cause of hypocalcemia should be taken into account when determining treatment. [endocrinologyadvisor.com]

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]

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]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

[…] inflammatory bowel disease and gastrointestinal bypass surgery genetic causes that result in vitamin D deficiency and vitamin D resistance primary hypophosphatemia e.g., X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets Etiology [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]

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]

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]

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]

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]

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]

Prevention, Vitamin D. Available online at http://www.nof.org/prevention/vitaminD.htm. Accessed February 2009. Bikle D. Nonclassic Actions of Vitamin D. J Clin Endocrinol Metab 2009; 94: 26-34. [labtestsonline.it]

Once vitamin D deficiency has been treated, prevention is required to prevent recurrence. [patient.info]

The health care team should focus on prevention, with education about the importance of calcium and vitamin D in diet and prevention of complications associated with existing disease. [medical-dictionary.thefreedictionary.com]