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]

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]

PRESENTATION AND CLINICAL FEATURES Hypocalcaemia may be an incidental finding, or it can result in symptoms such as paraesthesia or cramps. [adc.bmj.com]

• Poor Growth

  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]

  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]

  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]

• Anemia

  […] cell anemia and spherocytosis. [omicsonline.org]

  […] sensory ataxiaNeuropathyWhole blood concentration of pyridoxal phosphateSeizures: 50 to 100 mg IV or IMFolateCauliflower, green leafy vegetables, yeast, liver, kidney 13 y: 100 mcgMaturation of red blood cells and synthesis of nucleic acidsMegaloblastic anemia [pedsinreview.aappublications.org]

  Excludes1 androgen insensitivity syndrome ( E34.5 -) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55 .-) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase deficiency ( E29.1 [icd10coded.com]

  P74 ) Endocrine, nutritional and metabolic diseases E70-E88 2019 ICD-10-CM Range E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias [icd10data.com]

  […] to partial GHR deficiency Short stature due to primary acid-labile subunit deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-pituitary and cerebellar defects-small sella turcica syndrome Sickle cell anemia [se-atlas.de]

• 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]

• Developmental Disorder

  Investigations showed vitamin B [ 12 ] deficiency with hemocytopenia and pervasive developmental disorders as well as vitamin K and vitamin D deficiencies. The infant's mother presented the same deficiencies. [omicsonline.org]

• Dental Caries

  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]

• 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]

• Chest Deformity

  Symptoms include soft, pliable bones causing such deformities as bowlegs and knock-knees; nodular enlargements on the ends and sides of the bones; muscle pain; enlarged skull; chest deformities; spinal curvature; enlargement of the liver and spleen; profuse [medical-dictionary.thefreedictionary.com]

• Delayed Closure of Fontanelles

  There may be bony deformities of the chest, pelvis and skull, delayed dentition, poor growth, and bone pain. Softening of the skull (craniotabes) and frontal bossing in the first few months of life; delayed closure of fontanelles. [patient.info]

• Seizure

  seizure Exclusive breast feeding osteopenia 2 M 3 term NVD 2500 6000 Recurrent generalized tonic colonic seizure Exclusive breast feeding osteopenia 3 M 1.5 term NVD 3200 4500 Recurrent generalized tonic colonic seizure Exclusive breast feeding osteopenia [ijp.mums.ac.ir]

  Tetany/Seizures Tetany and seizures may occur in subjects with hyponatremia of diverse pathogenesis. [clinicaladvisor.com]

  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]

  In 1961, Prader first described this disorder including severe clinical features of rickets, such as hypophosphatemia, hypocalcemia, muscle weakness and seizure. [kjp.or.kr]

  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]

• Convulsions

  In more severe cases of vitamin D deficiency rickets when cramps, convulsions, muscle twitching and sharp bending of the ankle and wrist joints (tetany) is present the treatment with vitamin D is supplemented with calcium salts intravenously. [rarediseases.org]

  […] rate Widened wrists and knees Delayed teeth eruption, bad tooth enamel Bowed legs Rachitic rosary: enlarged costochondral junctions, "pigeon chest" Craniotabes: softening skull, delayed suture and fontanelle closure, frontal bossing Kid may be on anti-convulsants [brainscape.com]

  In the last day convulsions repeated every one hour. Initial Laboratory study revealed a serum total calcium 5.7 mg/dl (8.5-10.5), albumin 3.5 gram/dl, and ALP 1270 IU (180-1200). [ijp.mums.ac.ir]

  D-Deficient Rickets but more severe Clinical characteristics Type I joint pain/deformity, hypotonia, muscle weakness, growth failure, and hypocalcemic seizures or fractures in early infancy Type II bone pain, muscle weakness, hypotonia, hypocalcemic convulsions [orthobullets.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]

• Hypophosphatemia

  DB00153 Ergocalciferol Ergocalciferol is indicated for the treatment of hypoparathyroidism, refractory rickets, and familial hypophosphatemia. [drugbank.ca]

  […] more than 80% of all familial hypophosphatemia. [emedicine.medscape.com]

  The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}). [diseaseinfosearch.org]

  There is also a hereditary type of rickets, called X-linked hypophosphatemia, that causes the kidneys bo be unable to retain phosphate. [medical-dictionary.thefreedictionary.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]

• Hypophosphatemia

  DB00153 Ergocalciferol Ergocalciferol is indicated for the treatment of hypoparathyroidism, refractory rickets, and familial hypophosphatemia. [drugbank.ca]

  […] more than 80% of all familial hypophosphatemia. [emedicine.medscape.com]

  The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}). [diseaseinfosearch.org]

  There is also a hereditary type of rickets, called X-linked hypophosphatemia, that causes the kidneys bo be unable to retain phosphate. [medical-dictionary.thefreedictionary.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]

[…] 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]

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]

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