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Rahitism
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1
RAHITISMRAHITISM
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CALCIUCALCIU
Functia neuromuscularaFunctia neuromusculara Rol structural la nivel ososRol structural la nivel osos 3 fractiuni3 fractiuni
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CALCIUCALCIU
Fractiune ionizataFractiune ionizata
50% (1,1 – 1,3 mmol/l)50% (1,1 – 1,3 mmol/l)
functie neuromusculara optimalafunctie neuromusculara optimala
factori endocrinifactori endocrini
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CALCIUCALCIU
Fractiune legata de albuminaFractiune legata de albumina
40%40%
hipoalbuminemiahipoalbuminemia
Fractiune complexata cu alte moleculeFractiune complexata cu alte molecule
citrat/sulfatcitrat/sulfat
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CALCIUCALCIU
ABSORBTIEABSORBTIE
Portiunea superioara intestin subtirePortiunea superioara intestin subtire
11αα, 25 hidroxivitamina D , 25 hidroxivitamina D
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CALCIUCALCIU
EXCRETIEEXCRETIE
RinichiRinichi
ReabsorbtieReabsorbtie
TP – 70%TP – 70%
TD – 5 – 10% - control hormonalTD – 5 – 10% - control hormonal
Raport Ca/creatinina urina (N < 0,7 mmol Raport Ca/creatinina urina (N < 0,7 mmol sau 0,25 mg)sau 0,25 mg)
Absorbtie > excretie – mineralizare osoasaAbsorbtie > excretie – mineralizare osoasa
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FOSFATFOSFAT
FosfolipideFosfolipide Esteri fosfatEsteri fosfat Fosfat anorganicFosfat anorganic Concentratii serice ↑ - crestere rapidaConcentratii serice ↑ - crestere rapida
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FOSFATFOSFAT
ABSORBTIEABSORBTIE
Intestin subtireIntestin subtire
Cantitatea absorbitaCantitatea absorbita
fosfat din dietafosfat din dieta
agenti chelatori (CaCOagenti chelatori (CaCO33))
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FOSFATFOSFAT
EXCRETIEEXCRETIE
Reabsorbtie renalaReabsorbtie renala
TP 85 – 90% TP 85 – 90%
Factori hormonali – PTH - ↑ excretie fosfatFactori hormonali – PTH - ↑ excretie fosfat
2 gene2 gene
PHEXPHEX
FGF23FGF23
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FOSFATAZE ALCALINEFOSFATAZE ALCALINE
3 izoforme3 izoforme
IntestinalaIntestinala PlacentaraPlacentara Tesuturi nespecificeTesuturi nespecifice
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CALCIU - HOMEOSTAZIECALCIU - HOMEOSTAZIE
Parathormon PTHParathormon PTH Vitamina DVitamina D PTH related protein PTHrPPTH related protein PTHrP CalcitoninaCalcitonina
MagneziuMagneziu
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PTHPTH
2 organe tinta2 organe tinta
OsOs
RinichiRinichi
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PTHPTH
OSOS
Mineralizare osoasa – osteoblasti (PTH normal)Mineralizare osoasa – osteoblasti (PTH normal) Resorbtie osoasa – osteoclasti (PTH ↑, Ca ↓)Resorbtie osoasa – osteoclasti (PTH ↑, Ca ↓)
RINICHIRINICHI
↑ ↑ reabsorbtia Careabsorbtia Ca ↑ ↑ excretia Pexcretia P ↑ ↑ excretia NaHCO si aminoacizi (hiperPTH – excretia NaHCO si aminoacizi (hiperPTH –
sindrom Fanconi)sindrom Fanconi)
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VITAMINA DVITAMINA D
2 forme2 forme
ColecalciferolColecalciferolUV pe 7- dehidrocolesterolUV pe 7- dehidrocolesterol80% din vitamina D80% din vitamina D
ErgocalciferolErgocalciferol - plante - plante
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VITAMINA DVITAMINA D
NuNu are activitate biologica semnificativa are activitate biologica semnificativa
25 OH vitamina D (ficat, 25 hidroxilaza)25 OH vitamina D (ficat, 25 hidroxilaza)
1 1 αα, 25 (OH), 25 (OH)22 vitamina D vitamina D
Receptori specifici vitamina DReceptori specifici vitamina DReabsorbtie CaReabsorbtie CaInhiba secretia PTHInhiba secretia PTHMineralizare platou crestereMineralizare platou crestereDiferentiere osteoblastiDiferentiere osteoblasti
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CALCITONINACALCITONINA
Celule parafoliculare tiroidaCelule parafoliculare tiroida
OSOS Inhiba resorbtia osoasa (osteoclasti)Inhiba resorbtia osoasa (osteoclasti)
RINICHIRINICHI Inhiba reabsorbtie renala Ca, PInhiba reabsorbtie renala Ca, P
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RAHITISM- definitieRAHITISM- definitie
Reducere calcificare encondralaReducere calcificare encondrala cartilaj de cartilaj de cresterecrestere
Deformare cartilaj de crestereDeformare cartilaj de crestere
Reducere ritm crestereReducere ritm crestere
Deformari scheleticeDeformari scheletice
DEFICIT VITAMINA DDEFICIT VITAMINA D
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RAHITISM - tipuriRAHITISM - tipuri
CalciopenicCalciopenic
FosfopenicFosfopenic
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RAHITISM CALCIOPENICRAHITISM CALCIOPENIC
CaCa PP PTHPTH FAFA 25 OH 25 OH DD
1, 25 1, 25 (OH)(OH)22
DD
TRPTRP AaAa
Deficit Deficit vitamina Dvitamina D
NN N/↓N/↓ ↑↑/↓/↓ ↑↑ ↓↓ ↓↓/N/↑/N/↑ ↓↓ negneg
Deficit Deficit
1 1 αα hidroxilazahidroxilaza
↓↓ N/↓N/↓ ↑↑ ↑↑ NN ↓↓ ↓↓ negneg
Rahitism Rahitism
1, 25 (OH)1, 25 (OH)22
D rezistentD rezistent
↓↓ ↓↓ ↑↑ ↑↑ NN ↑↑↑↑ ↓↓ negneg
↑↑
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RAHITISM CALCIOPENICRAHITISM CALCIOPENIC OsteopeniaOsteopenia Hipocalcemie (iritabilitate, tetanie, convulsii)Hipocalcemie (iritabilitate, tetanie, convulsii)
Hiper PTH secundar
Resorbtie osoasa ↑
Masa osoasa ↓
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RAHITISM FOSFOPENICRAHITISM FOSFOPENIC
Osteoid nemineralizat ↑Osteoid nemineralizat ↑
Osteopenie – nuOsteopenie – nu
Hiper PTH – nuHiper PTH – nu
Masa osoasa normalaMasa osoasa normala
Simptomatologie redusaSimptomatologie redusa
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RAHITISM – manifestari cliniceRAHITISM – manifestari clinice Reducere ritm crestereReducere ritm crestere
Deformatii scheleticeDeformatii scheletice
Achizitii motorii intarziateAchizitii motorii intarziate
Letargie, iritabilitate, tetanie, convulsiiLetargie, iritabilitate, tetanie, convulsii
ECG – disfunctie ventriculara stanga – Ca ECG – disfunctie ventriculara stanga – Ca ↓↓
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RAHITISM – semne osoaseRAHITISM – semne osoase
CRANIUCRANIU CraniotabesCraniotabes DeformariDeformari
Bose frontale, parietaleBose frontale, parietale
Asimetrii (plagiocefalie)Asimetrii (plagiocefalie) Fontanela anterioara larg deschisaFontanela anterioara larg deschisa Anomalii dentareAnomalii dentare
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RAHITISM – semne osoaseRAHITISM – semne osoase
TORACETORACE
Tumefactie jonctiuni condrocostaleTumefactie jonctiuni condrocostale
Torace ingust, baza larga, proeminenta Torace ingust, baza larga, proeminenta false coaste – sant Harrisonfalse coaste – sant Harrison
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RAHITISM – semne osoaseRAHITISM – semne osoase
MEMBREMEMBRE
Tumefiere epifizara oase lungi (bratari rahitice)Tumefiere epifizara oase lungi (bratari rahitice)
Articulatia radiocarpiana/tibiotarsianaArticulatia radiocarpiana/tibiotarsiana
Genu varum (timpuriu)Genu varum (timpuriu)
Genu valgumGenu valgum
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RAHITISM – semne osoaseRAHITISM – semne osoase
COLOANA VERTEBRALACOLOANA VERTEBRALA
ScoliozaScolioza
CifozaCifoza
LordozaLordoza
AdolescentiAdolescenti
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RAHITISM – semne musculareRAHITISM – semne musculare
Hipotonie muscularaHipotonie musculara
Retard achizitii motorii Retard achizitii motorii
Distensie abdominalaDistensie abdominala
Reducere eficienta ventilatorieReducere eficienta ventilatorie
Miopatie proximalaMiopatie proximala
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RAHITISM – alte manifestariRAHITISM – alte manifestari
Disfunctie imunaDisfunctie imuna
Infectii respiratoriiInfectii respiratorii
Infectii gastrointestinaleInfectii gastrointestinale
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RAHITISM – semne radiologiceRAHITISM – semne radiologice
Hiper PTH secundarHiper PTH secundar
Absenta calcificarii encondrale cartilaj de Absenta calcificarii encondrale cartilaj de cresterecrestere
Reducere mineralizare tesut osteoidReducere mineralizare tesut osteoid
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RAHITISM – semne radiologiceRAHITISM – semne radiologice
Absenta demarcatie cartilaj de crestere – extremitate Absenta demarcatie cartilaj de crestere – extremitate distala metafizadistala metafiza
Cartilaj crestere largitCartilaj crestere largit
Metafize cu aspect neregulat, largiteMetafize cu aspect neregulat, largite
Epifize invizibileEpifize invizibile
Articulatia radiocarpiana/genunchiArticulatia radiocarpiana/genunchi
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RAHITISM – semne radiologiceRAHITISM – semne radiologice
Demineralizare generalizata/osteopenieDemineralizare generalizata/osteopenie
Corticala subtireCorticala subtire
Dedublari periostaleDedublari periostale
Linie orizontala de calcificare la nivel metafizarLinie orizontala de calcificare la nivel metafizar
Vindecare – luni/aniVindecare – luni/ani
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RAHITISM – semne biologiceRAHITISM – semne biologice
Concentratia vitamina DConcentratia vitamina D < 15 ng/ml – deficit < 15 ng/ml – deficit 15 – 20 ng/ml – aport insuficient15 – 20 ng/ml – aport insuficient
CaCa Normal – hiper PTHNormal – hiper PTH
PP ↓↓/N/↑/N/↑
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RAHITISM – semne biologiceRAHITISM – semne biologice
FAFA ↑↑
Varsta/status pubertar/ritm crestere/status Varsta/status pubertar/ritm crestere/status nutritionalnutritional
Cel mai bun marker evaluare terapieCel mai bun marker evaluare terapie
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RAHITISM – stadii evolutive (1)RAHITISM – stadii evolutive (1)
↓ ↓ 25 OH D25 OH D
↓ 1, 25 (OH) D
↓ absorbtia intestinala
hipocalcemie ↑ FA Hiper PTH
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RAHITISM – stadii evolutive (2)RAHITISM – stadii evolutive (2)
Hipocalcemie – hiperPTH – calcemie normalaHipocalcemie – hiperPTH – calcemie normala
Manifestari clinice si radiologiceManifestari clinice si radiologice
42
RAHITISM - stadii evolutive (3)RAHITISM - stadii evolutive (3)
Hiper PTH ineficient – hipocalcemieHiper PTH ineficient – hipocalcemie
Hipocalcemie si hipofosfatemie – Hipocalcemie si hipofosfatemie – manifestari clinice severemanifestari clinice severe
43
RAHITISM – stadii evolutiveRAHITISM – stadii evolutive
Stadiu 1Stadiu 1 Stadiu 2Stadiu 2 Stadiu 3Stadiu 3
25 OH D25 OH D ↓↓ ↓↓ ↓↓
CaCa ↓↓ ↑↑ ↓↓
PTHPTH ↑↑ ↑↑ ↑↑↑↑
PP NN ↓↓ ↓↓
FAFA ↑↑ ↑↑ ↑↑
44
RAHITISM - tratamentRAHITISM - tratament
Deficit vitamina DDeficit vitamina D
5000 – 15000 UI/zi 4 - 8 saptamani, po5000 – 15000 UI/zi 4 - 8 saptamani, po 200000 – 600000 UI, im200000 – 600000 UI, im Concentratie 25 OH DConcentratie 25 OH D
Supliment CaSupliment Ca Expunere la soareExpunere la soare
45
RAHITISM - prevenireRAHITISM - prevenire
Vitamina D 400 – 600 UI/ziVitamina D 400 – 600 UI/zi Formulele lapte – 400 UI/lFormulele lapte – 400 UI/l Laptele matern – 20 – 60 UI/l !!!Laptele matern – 20 – 60 UI/l !!!
Expunere la soareExpunere la soare