Rickets Types and Treatment with Vitamin D and Analogues
Abstract
:1. Introduction
2. Materials and Methods
3. Vitamin D
4. Vitamin D Deficiency
5. Types of Rickets
6. Clinical Manifestation and Radiologic Features
7. Diagnostic Approach to Suspected Rickets
8. Treatment
8.1. Nutritional Rickets due to Vitamin D Deficiency
8.2. Genetic Vitamin-D Dependent Rickets
8.3. X-Linked Hypophosphatemic Rickets (XLH)
9. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Age | Dose IU |
---|---|
0–3 months | 400/die |
1–3 years | 600/die |
4–10 years * | 600–1000/die |
11–18 years * | 1000–2000/die |
19–65 years * | 1000–2000/die |
65–75 years | 1000–2000/die |
>75 years | 2000–4000/die |
Calcipenic Rickets | Causes |
---|---|
Nutritional rickets | Calcium deficiency |
Vitamin D deficiency | |
Congenital defects of action of Vitamin D | Vitamin D dependent rickets type 1A Vitamin D dependent rickets type 1B Vitamin D dependent rickets type 2A Vitamin D dependent rickets type 2B Vitamin D dependent rickets type 3 |
Acquired vitamin D deficiency | Hepatic insufficiency |
Renal insufficiency | |
Malabsorption | |
Drugs | |
Hyperparathyroidism |
Hypophosphatemic Rickets | Causes |
---|---|
Nutritional/reduced intestinal intake/absorption of phosphates | Malnutrition |
Prematurity | |
Phosphate chelators Administration of elemental formulas Total parental nutrition Gastrointestinal nutrition (e.g., short bowel syndrome) Cellular re-distribution Insulin therapy in diabetic ketoacidosis Acute respiratory alkalosis Re-feeding syndrome | |
Increased renal phosphate loss | FGF23-related hypophosphatemia |
Hypophosphatemic rickets with hypercalciuria | |
Renal proximal tubule dysfunction/Fanconi’s syndrome | Oculocerebrorenal syndrome |
X-linked recessive nephrolithiasis | |
Infantile cystinosis Tyrosinemia Hepatolenticular degeneration |
Grade | Description | |
---|---|---|
Wrist 1 | 0 | normal growth cartilage without signs of rickets |
0.5 | metaphyseal margin radiolucency without enlargement or irregularity of the metaphyseal margin | |
1 | enlargement of growth cartilage, irregularity of metaphyseal margin | |
1.5 | partial metaphyseal concavity or incomplete irregularity of metaphyseal margin | |
2 | concave appearance of the metaphyses with fraying of the margins | |
Knee 2 | 0 | normal growth cartilage without signs of rickets |
1 | partial radiolucency, regular margins of metaphyses | |
2 | partial radiolucency, irregular margins of the metaphyses | |
3 | complete radiolucency, the epiphyses are clearly separated from metaphyses |
Ca | P | ALP | uCa | FGF23 | PTH | 25OHD | 1,25(OH)2D | |
---|---|---|---|---|---|---|---|---|
Nutritional Rickets with vitamin D deficiency | N, < | N, < | > | < | N, < | N | < | >, N, < |
Nutritional Rickets with Ca deficiency | N, < | N, < | > | < | > | N, > | N, < | > |
XLH rickets | N | < | > | N | > | N, > | N | N, < |
Hereditary hypophosphatemic Rickets with hypercalciuria | N | < | > | > | < | N, < | N | > |
Hypophosphatemic Rickets with Hyperparathyroidism | N | < | > | N | > | > | N | N |
Vitamin D-dependent R. type 1A | < | < | > | < | N, < | > | N, > | < |
Vitamin D-dependent R. type 1B | N, < | < | > | < | ? | > | < | < |
Vitamin D-dependent R. type 2A | < | < | > | < | N, < | > | N, > | > |
Vitamin D-dependent R. type 2B | < | < | > | < | ? | > | N, > | > |
vitamin D-dependent R. type 3 | < | < | > | < | ? | > | < | < |
Society/Organization | Year | Severe Deficiency | Deficiency | Insufficiency | Sufficiency/ Adequacy |
---|---|---|---|---|---|
Canadian Pediatric Society | 2007 | - | <10 ng/mL | 10–29 ng/mL | ≥30 ng/mL |
Lawson Wilkins Pediatric Endocrine Society | 2008 | <5 ng/mL | 5–14 ng/mL | 15–19 ng/mL | ≥20 ng/mL |
Institute of Medicine | 2011 | - | <12 ng/mL | 12–20 ng/mL (a) | ≥20 ng/mL |
The Endocrine Society | 2011 | - | <20 ng/mL | 21–29 ng/mL | ≥30 ng/mL |
British Paediatric and Adolescent Bone Group | 2012 | - | < 10 ng/mL | 10–19 ng/mL | ≥20 ng/mL |
French Society of Paediatrics | 2012 | - | < 20 ng/mL | - | ≥20 ng/mL |
Asociación Espanola de Pediatría (Spain) | 2012 | - | <20 ng/mL | - | ≥20 ng/mL |
Federal Commission for Nutrition (Switzerland) | 2012 | <10 ng/mL | <20 ng/mL | - | ≥20 ng/mL |
Nordic Nutrition Recommendations | 2012 | - | <12 ng/mL | 12–20 ng/mL | ≥20 ng/mL |
German Nutrition Society | 2012 | - | - | - | ≥20 ng/mL |
Health council of the Netherlands | 2012 | - | - | - | ≥12 ng/mL |
European Society for Paediatric Gastroenterology Hepatology and Nutrition | 2013 | <10 ng/mL | <20 ng/mL | - | ≥20 ng/mL |
Central Europe | 2013 | - | <20 ng/mL | 20–29 ng/mL | ≥30 ng/mL |
Society for Adolescent Health and Medicine | 2013 | - | <20 ng/mL | 20–29 ng/mL | ≥30 ng/mL |
Australia/New Zealand | 2013 | <5 ng/mL | 5–11 ng/mL | 12–19 ng/mL | ≥20 ng/mL |
American Academy of Pediatrics | 2014 | - | <20 ng/mL | - | ≥20 ng/mL |
Japanese Society for Bone and Mineral Research, Japan Endocrine Society (b) | 2015 | - | <20 ng/mL | - | - |
Scientific Advisory Committee on Nutrition | 2016 | - | - | - | ≥10 ng/mL |
European Food Safety Authority | 2016 | - | - | - | ≥20 ng/mL |
United Arab Emirates | 2016 | - | <20 ng/mL | 20–29 ng/mL | ≥30 ng/mL |
Global Consensus for rickets | 2016 | - | <12 ng/mL | 12–19 ng/mL | ≥20 ng/mL |
Japanese Society for Bone and Mineral Research, Japan Endocrine Society (c) | 2017 | - | <20 ng/mL | 20–29 ng/mL | ≥30 ng/mL |
European Academy of Pediatrics | 2017 | Definition of vitamin D status is unclear due to a lack of consensus |
2009 Polish Recommendations | 2013 Central European Recommendations | 2018 Polish Recommendations | |
---|---|---|---|
Diagnostics Thresholds Defining Vitamin D Status on the Basis of Serum 25(OH)D Concentration [ng/mL] * | |||
Sufficiency | Children: 20–60 Adults: 30–80 | 30–50 | 30–50 |
Insufficiency | Not defined | 20–30 | 20–30 |
Deficiency | <10 | <20 | 10–20 deficiency <10 severe deficiency |
Toxicity | Not defined | >100 | >100 |
Age | Dose IU | Duration |
---|---|---|
<3 months | 2000 | 3 months |
3–12 months | 2000 | 3 months |
>1–12 years | 3000–6000 | 3 months |
>12 years | 6000 | 3 months |
Age | Dose IU | Duration |
---|---|---|
3–12 months | 50,000 | Single dose |
>1–12 years | 150,000 | Single dose |
>12 years | 300,000 | Single dose |
Vitamin D or Metabolites | Calcium Salt | |
---|---|---|
Vitamin D dependent rickets type 1A | Alfacalcidiol or calcitriol 10–100 ng/kg/day | 0.5–3 g/day in 2–3 doses |
Vitamin D dependent rickets type 1 B | Homozygous patient: vitamin D 600,000 IU/every 3 months | 0.5–2 g/day in 2–3 doses |
Heterozygous patients: vitamin D 5000–10,000 IU/day or | ||
Calcifediol 15–50 µg/day | ||
Vitamin D dependet rickets type 2 | Calcitriol or alfacalcidol 10–400 ng/kg/day | 3–6 g/day in 2–3 doses |
Vitamin D dependent rickets type 3 | Vitamin D 20,000–50,000/day |
Treatment Before the Development of Clinical or Radiological Signs and Symptoms | Treatment in Presence of Clinical Signs or Symptoms | |
---|---|---|
Start dose | Alfacalcidiol: 25–40 ng/kg/day | Alfacalcidiol: 40–80 ng/kg/day |
Calcitriol: 20–30 ng/kg/day | Calcitriol: 20–40 ng/kg/day | |
Inorganic phosphate salts: 40–60 mg/kg/day (divided into 4–6 doses/day) | Inorganic phosphate salts: 40–60 mg/kg/day (divided into 4–6 doses/day) | |
Retention dose | Alfacalcidiol: 25–40 ng/kg/day (1–2 µg/day) Calcitriol: 20–40 ng/kg/day Inorganic phosphate salts: 30–60 mg/kg/day (divided into 4–6 doses/day) |
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Biasucci, G.; Donini, V.; Cannalire, G. Rickets Types and Treatment with Vitamin D and Analogues. Nutrients 2024, 16, 416. https://doi.org/10.3390/nu16030416
Biasucci G, Donini V, Cannalire G. Rickets Types and Treatment with Vitamin D and Analogues. Nutrients. 2024; 16(3):416. https://doi.org/10.3390/nu16030416
Chicago/Turabian StyleBiasucci, Giacomo, Valentina Donini, and Giuseppe Cannalire. 2024. "Rickets Types and Treatment with Vitamin D and Analogues" Nutrients 16, no. 3: 416. https://doi.org/10.3390/nu16030416
APA StyleBiasucci, G., Donini, V., & Cannalire, G. (2024). Rickets Types and Treatment with Vitamin D and Analogues. Nutrients, 16(3), 416. https://doi.org/10.3390/nu16030416