Nutritional (vitamin D deficient) rickets – a neglected diagnosis? Case report
Authors:
Kutílek Štěpán 1; Rondziková Eva 1; Pečenková Kamila 1; Vracovská Martina 1; Pikner Richard 2; Švábková Marie Radová Eva 1; Benešová Šperlová Alžběta 3; Šteinerová Martina 1; Hubatová Šárka 1
Authors‘ workplace:
Dětské oddělení, Klatovská nemocnice a. s., Klatovy
1; Oddělení klinických laboratoří, pracoviště kostního metabolizmu, Klatovská nemocnice a. s., Klatovy
2; Radiodiagnostické oddělení, Klatovská nemocnice a. s., Klatovy
3
Published in:
Clinical Osteology 2020; 25(4): 213-217
Category:
Overview
Nutritional (vitamin D deficient) rickets is currently considered a rare disease, due to overall vitamin D prophylaxis throughout the infantile period. However, nutritional rickets has to considered in children from families of low socio-economic status and in infants of uncooperative parents. We present a case of a two year old girl, from a family of very low socio-economic status, where uncooperative parents completely neglected vitamin D prophylaxis in the first year of life and the patient was referred because of psychomotor retardation and late onset of (waddling) gait. Biochemical assessment revealed high values of serum alkaline phosphatase activity (S-ALP, 19 µkat/L) and parathyroid hormone, wrist X-ray bore typical rachitic signs (cupping, fraying). Because of uncooperative family, the girl received “stoss“ therapy of 300,000 IU ergocalciferol once monthly for 3 consecutive months, which resulted in normalization of biochemical indices and complete healing of the rickets. Nutritional rickets is not an extinct disease and should be kept in mind, especially in children with low socio-economic background, and in cases of psychomotor retardation and, especially, skeletal deformities and/or waddling gait.
Keywords:
alkaline phosphatase – parathyroid hormone – psychomotor retardation – rickets – vitamin D
Sources
- Whyte MP, Thakker RV. Rickets and osteomalacia. Medicine 2009; 37(9): 483–488. Dostupné z DOI: <https://doi.org/10.1016/j.mpmed.2009.06.004>.
- Glorieux FH. Rickets, the continuing challenge. N Engl J Med 1991; 325: 1875–1877. Dostupné z DOI: <http://DOI: 10.1056/NEJM199112263252609>.
- Kutilek Š, Bayer M, Leiska A. Rachitis. Osteolog Bull 1998; 3: 45–52.
- DeLuca HF. The evolution of vitamin D from a nutritional factor to a multifunctional hormone. International Bone Forum. The Second International Forum on Calcified Tissue and Bone Metabolism. Chugai Pharmaceutical Co Ltd 1993: 6–11.
- Gibbs D. Rickets and the crippled child: a historical perspective. J Royal Soc Med 1994; 87(12): 729–732.
- Specker BL, Tsang RC. Vitamin D in infancy and childhood: Factors determining vitamin D status. Adv Pediatr 1986; 33: 1–22.
- Kutilek S, Skalova S. Erroneous diagnosis of rickets. Turk Pediatri Ars 2017; 52(3):178–179. Dostupné z DOI: <http://doi: 10.5152/TurkPediatriArs.2017.4890>.
- Bayer M, Kutílek Š, Chvojková E, Novák J. Deficitní křivice v dětském věku. Návrh na standard diagnostických a léčebných výkonů. Osteolog Bull 1997; 3: 76–77.
- Munns CF, Shaw N, Kiely M et al. Global consensus recommendations on prevention and management of nutritional rickets. J Clin Endocrinol Metab 2016; 101(2): 394–415. Dostupné z DOI: <http://doi: 10.1210/jc.2015–2175>.
- Bronský J, Kalvachová B, Kutílek Š, Šebková A, Škvor J, Šumník Z, Tláskal P, Zima Z. Doporučený postup České pediatrické společnosti a Odborné společnosti praktických dětských lékařů ČLS JEP pro suplementaci dětí a dospívajících vitaminem D. Čes-Slov Pediat 2019; 74(8): 473–482.
- Uday S, Högler W, Uday S et al. Nutritional rickets & osteomalacia: A practical approach to management. Indian J Med Res 2020; 152(4): 356–367. Dostupné z DOI: <http://DOI: 10.4103/ijmr.IJMR_1961_19>.
- Tannous P, Fiscaletti M, Wood N et al Safety and effectiveness of stoss therapy in children with vitamin D deficiency. J Paediatr Child Health 2020; 56(1): 81–89. Dostupné z DOI: <http://doi: 10.1111/jpc.14497>.
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Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology Traumatology OsteologyArticle was published in
Clinical Osteology
2020 Issue 4
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