RAHITISM

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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

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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

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RAHITISM – stadii evolutiveRAHITISM – stadii evolutive

Stadiu 1Stadiu 1 Stadiu 2Stadiu 2 Stadiu 3Stadiu 3

25 OH D25 OH D ↓↓ ↓↓ ↓↓

CaCa ↓↓ ↑↑ ↓↓

PTHPTH ↑↑ ↑↑ ↑↑↑↑

PP NN ↓↓ ↓↓

FAFA ↑↑ ↑↑ ↑↑

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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

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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