This document discusses clinical features, causes, and treatment of rickets. It describes common deformities seen in rickets such as bowed legs. The main causes of rickets discussed are vitamin D deficiency, calcium deficiency, phosphorus deficiency, renal losses, and distal renal tubular acidosis. Nutritional vitamin D deficiency is usually the most common cause globally. Treatment involves ensuring adequate intake of calcium, phosphorus, and vitamin D.

1. Clinical features, causes and treatment

2. • CLINICALFEATURES: v
deformities
• EXTREMITIES
 Enlargementofwristsandankles
 Valgusorvarusdeformities.
 Anteriorbowingofthetibiaandfemur
 Coxavara
 Legpain

3. • CLINICALFEA
TURES:
• EXTREMITIES
• Valgusorvarusdeformities
• Windsweptdeformity (combinationofvalgus
deformity of1legwithvarusdeformityof theother
leg).
• Anteriorbowingofthetibiaandfemur.
• Coxavara

4. • CLINICALFEATURES:
 HYPOCALCEMICSYMPTOMS:
 Tetany
 Seizures
 Stridorduetolaryngealspasm

5. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

6. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

7. CAUSES OF RICKETS:
• NUTRITIONALVITDDEFICIENCY:
 Most common causeof ricketsglobally.
 Etiology:
 Most common in infancy: Duetopoor intake +inadequate cutaneous synthesis.
 Transplacentaltransport of vitamin D,mostly 25-D,providesvitaminDfor 1st 2month of life unlessthere issevere
maternal vitamin Ddeficiency.
 Breast-fed infants, becauseof low vitamin Dcontent of breastmilk, rely on cutaneous synthesisor vitamin
supplements.
 Infants who receive formula receive adequate vitaminD,even without cutaneoussynthesis.

8. CAUSES OF RICKETS:
• NUTRITIONALVITDDEFICIENCY:
 Most common causeof ricketsglobally.
 Etiology:
 Cutaneoussynthesisislimited by ineffective winter sun;andby increasedskinpigmentation.
 Mothers may have same risk factors decreased maternal vitamin D reduced vitamin D in breast milk + less
transplacental deliveryof vitamin D.
 Unconventional dietary practices, suchasvegandiets that use unfortified soymilk or ricemilk.

9. • NUTRITIONALVITDDEFICIENCY:
DIAGNOSIS:
• History of poor vitamin Dintake & risk factorsfor decreased cutaneoussynthesis.
• Radiographicchangesconsistent with rickets.
• Laboratory findings.
• Normal PTHlevel almost never occurswith vitamin Ddeficiency and suggestsaprimary phosphatedisorder.
• Calciumdeficiency mayoccur with or without vitaminDdeficiency.
• Anormal level of 25-Dandadietary history ofpoor calcium intake support adiagnosisof isolated calcium
deficiency.
CAUSES OF RICKETS:

10. CAUSES OF RICKETS:
• NUTRITIONALVITDDEFICIENCY:
• Treatment:
2 strategies for vitamin D adminstration:
Stosstherapy:
 300,000–600,000 IU of vitamin Doral or IMas2–4 dosesover 1 day.
Becausedoses are observed, stoss therapy is ideal where adherence to therapy is questionable.
Alternative:
 Daily, high-dose vitamin D,with dosesrangingfrom 2,000–5,000 IU/day over 4–6wk.
 Either strategy should be followed by daily vitamin Dintake of400 IU/day, typically given asa
multivitamin.
 Ensureadequate dietary calcium & phosphorus; (milk, formula, and other dairyproducts)

11. CAUSES OF RICKETS:
CONGENITALVITDDEFICIENCY:
• OccursifseverematernalvitaminDdeficiencyduringpregnancy.
• Maternal riskfactors:
-Poordietaryintakeof vitaminD,
-Lackof adequatesunexposure,and
-Closelyspacedpregnancies.
• Treatmentof congenitalrickets:
-VitaminDsupplementation
-Adequateintakeof CalciumandPhosphorus.
• Prevention:
-Useof prenatalvitamins containingvitaminD.

12. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

13. CAUSES OF RICKETS:
CALCIUMDEFICIENCY:
CAUSES:
• After weaning/ early weaning.
• Lowcalcium content in diet. (<200mg/day)
• Grains&greenleafy vegetables high in phytate, oxalate, and phosphate decreaseabsorption of dietarycalcium.
• In children gettingIVnutrition without adequatecalcium.
• Malabsorption ofcalcium:
-in celiacdisease,
-intestinal abetalipoproteinemia,and
-after small bowelresection.

14. CAUSES OF RICKETS:
CALCIUMDEFICIENCY:
Treatment.
• Calciumsupplement (350–1,000 mg/day of elementalcalcium).
• Vitamin Dsupplementation if concurrent vitaminDdeficiency.
• Prevention:
-Discourageearly cessationof breast-feeding.
-Increase dietary sourcesof calcium.

15. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

16. CAUSES OF RICKETS:
Phosphorusdeficiency
INADEQUATEINTAKE.
• Onlyinstarvationorsevereanorexia.
• Malabsorption ofphosphorus.(celiacdisease,cystic fibrosis,cholestaticliverdisease); Butricketsisprimarily dueto
malabsorptionofvitaminDand/or calcium.
• Isolatedmalabsorptionofphosphorus:inlong-termuseof aluminium-containingantacids

17. CAUSES OF RICKETS:
Phosphorusdeficiency
X-LINKEDHYPOPHOSPHATEMICRICKETS.
 Treatment.
 Patientsrespondwell to combination of oralphosphorus and1,25-D (calcitriol).
 Daily: 1–3gof elemental phosphorusdivided into4–5 doses.
 Frequent dosinghelpsto prevent prolonged decrementsin serumphosphorusbecausethere isarapid
decline after eachdose.
 In addition, frequent dosingdecreasesdiarrhea,a complication of high-doseoralphosphorus.
 Calcitrol : 30–70ng/kg/day divided into 2doses.

18. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

19. CAUSES OF RICKETS:
1-VitaminDdisorders.
2-CalciumDeficiency.
3-PhosphorusDeficiency.
4-Renallosses.
5-DistalRTA.

20. • Transferof calciumand phosphorus from mother to fetus occurs throughout pregnancy, but 80%
occursduring the 3rdtrimester.
• Premature birth interrupts this process sorickets develop.
• Most casesof ricketsof prematurity occurin birthweight <1,000g.
• More likely to develop in infants with lower birthweight and younger gestationalage.
• Rickets occurs because unsupplemented breast milk and standard infant formula do not contain
enough calcium and phosphorus to supply the needsof the prematureinfant.
Rickets of Prematurity
PATHOGENISIS

21. Rickets of Prematurity
ClinicalManifestations.
 Ricketsof prematuritypresents1-4 months afterbirth.
 Infantsmayhavenontraumaticfractures.
 Fractures& softeningofribs decreasedchestcompliance
respiratorydistressduetoatelectasis&poor ventilation.
 Rachiticrespiratorydistressusuallydevelops >5weeksafterbirth, distinguishingitfromtheearly-onset respiratorydiseaseof
prematureinfants.

22. Rickets of Prematurity
ClinicalManifestations.
 Poorlineargrowth.
 Enamelhypoplasia.
 Poorbonemineralization dolichocephaly.
 ClassicrachiticfindingsMAY bepresent.
 Most infantswithricketsof prematurityhaveno clinical manifestations,anddiagnosisisbasedonradiographic&
lab findings.

23. Rickets of Prematurity
Laboratory finding
 Duetoinadequateintake:serumphosphoruslevelisloworlow- normal.
 Renalconservationof phosphate:Lowurinephosphatelevel;
 Mostpatientshavenormallevels of 25-D,unlesstherehas been inadequateintakeorpoor absorption.
 Hypophosphatemiastimulatesrenal1α-hydroxylase 1,25-Dis highorhigh-normal.Thesehighlevels may
contributeto bone demineralizationbecause1,25-Dstimulatesboneresorption

24. Rickets of Prematurity
Laboratory finding
 Serumcalciumislow,normal,orhigh,andpatients oftenhave hypercalciuria.
 Elevatedserumcalciumlevels and hypercalciuriaaresecondaryto:
 -increased intestinalabsorption and bonedissolution dueto elevation of 1,25-Dlevelsand
 -theinabilitytodepositcalciuminbonebecauseofan
 inadequatephosphorussupply
.
 Thereisaninadequatesupplyofcalciumandphosphorus,butthe deficiencyin phosphorus isgreater
.

25. Rickets of Prematurity
Laboratory finding
 Alkaline phosphataseoftenelevated,butsomehavenormallevels.
 Nosinglebloodtestis100%sensitiveforthediagnosisofrickets.
 Thediagnosisshouldbesuspectedininfantswith:
alkalinephosphataselevelmorethan5–6timestheupper limitofnormalforadults(unlessthereis
concomitantliverdisease.
Or phosphoruslevel<5.6mg/dL.

26. Rickets of Prematurity
Laboratory finding
• Confirmedbyradiologicevidenceofrickets-bestseenonfilmsof1 wristsandankles.
• Rachiticrosarymaybevisible onchestx-ray
.
• Unfortunately,x-raysarenot ableto detectearlydemineralization of bonebecausechangesarenotevidentuntilthere
is >20–30% reductioninbonemineralcontent.

27. Rickets of Prematurity
Diagnosis:
 Screeningtestsarerecommended.
 Weeklymeasurementsof calcium,phosphorus,andalkaline phosphatase.
 Periodicmeasurement of serumbicarbonateis importantbecause metabolicacidosiscausesdissolutionofbone.
 Atleast1screeningx-rayforricketsat6–8 wkofage;additional
filmsinveryhigh-riskinfants.

28. Rickets of Prematurity
Prevention:
 Adequateamountsofcalcium,phosphorus& vitaminD decreases theriskof ricketsofprematurity.
 Parenteralnutritionis oftennecessaryinitiallyinverypremature infants. Currentamino acidpreparationsallow
forhigher concentrationsof calciumandphosphate.
 Earlytransitiontoenteralfeedingsis alsohelpful.
 Soyformulashouldbeavoidedbecausethereis decreased bioavailability of calciumandphosphorus.

29. Rickets of Prematurity
Prevention:
 Humanmilkfortifiedwithcalcium& phosphorusorpreterminfant formula,whichhas higherconcentrationsof
calciumand phosphorusthanstandardformula.
 Increased mineralfeedingsshouldcontinueuntiltheinfantweighs 3–3.5kg.
 Theseinfantsshouldalso receiveapproximately400IU/dayof vitaminDvia formulaand vitaminsupplements.
Treatment.
 Ensureadequatecalcium,phosphorus,and vitaminD.