PREZENTARE DE

CAZ

Indrumator Conf. Dr. Elena Rezus

Hirja Anca Roxana -medic rezident an 4-

PACIENTA P.P, 12 ani si 11 luni

Februarie 2011: Clinica a 2a Pediatrie Iasi

Rash malar

Ulceratii orale

Artrita artic mici maini

Ac anti ADNdc

Ac anti Sm pozitivi

LES

ANA total crescut

C3 scazut

AHC

Mama (39 ani), Tatal (40 ani),6 frati- aparent sanatosi

CVM

Mediu precar (rural)

Nu mai este scolarizata

Pensionata medical

Biologic

VSH=92 mm/h

Hb= 7.9 g/dl

Gammaglobuline= 52%

In cadrul dg diferential s-au exclus TBC, HIV

EMG cu traseu miogen

Tratam: pulse-uri cu SoluMedrol apoi

Prednison 15 mg/zi

Necomplianta terapeutic!

Evolutie

Martie 2011- Pneumonie interstitiala

Mai 2011- Sdr cushing iatrogen. Gastrita cronica

Decembrie 2011- refluare tricuspidiana gr II, DSA- OS. Citoliza hepatica (2.5xN)

Ianuarie 2012- Pneumonie interstitiala. Spasmofilie latenta

Octombrie 2012- spasmofilie manifesta. Hipostatura. Citoliza hepatica (1.5xN) Fenomen Raynaud. Crioglobulinemie.

Februarie 2014- osteopenie. Infectie cronica cu CMV, VEB, Toxoplasma gondii. Esofagita gr I. Gastrita purpurica.BRGE. Duodenita pseudopolipoidala

August 2014 (la 16 ani)- Sarcina in evolutie (VG 9 sapt)avort terapeutic

Tratament urmat intermitent: Imuran 50 mg/zi si Prednison alternativ

Evolutie

Decembrie 2015: stare generala grava, comatoasa, cu crize convulsive tonico-clonice

(TA= 200/110 mm Hg) CT cerebral: absenta zonelor ischemice cerebrale, atrofie

cerebrala cortico-subcorticala. Angio-RM si RMN cerebral cu subst de contrast efectuat in

ianuarie 2016 deceleaza leziuni de demielinizare situate la nivelul substentei albe si juxtacortical fronto-parietal si pontin drept

Cecitate OD

Vasculita lupica cerebrala

LES dislipidemie

corticoterapia ATS accelerata

HTA

A primit tratam cu Nifedipin, Furosemid, Metoprolol

Nifedipin 50 mg/zi

Ac anti cardiolipin 7.84 (0- 23)

DDimeri= 331ng/ml (0- 250)

cANCA, pANCA-normale

Evolutie

In feb 2016- Ecocardiografic:

cardiomiopatie hipertrofica concentrica

Insuficienta mitrala gradul I-II

PVM anterioara

Insuficienta aortica gradul I

Reactie pericardica minima

Neuropsihiatric- tulburari neurosenzoriale interpretate in

cadrul bolii de baza + post afectare aparuta in cadrul

encefalopatiei si a convulsiilor.

Martie 2016: Clinica a 2a Pediatrie Tratament: pulse-uri SoluMedrol 2g/zi, 3 zile consecutiv, ulterior Prednison

20 mg/zi po Imuran 50 mg/zi Nifedipin 50 mg/zi.

Transfer in Clinica Reumatologie I

Dureri cu caracter mixt pumni, articulatii mici maini Fenomen Raynaud maini T=1.50 m

G= 40 kg TA= 140/100 mm Hg FC= 80/min, ritmic, fara sufluri supraadaugate/frecatura

pericardica

Hipotrofie staturo-ponderala

Hiperpigmentatie constitutionala

Facies cu aspect cushingoid

Aparat locomotor

• mers schipatat pe dreapta

• durere la palparea RCC dr

• degete IV-V bilateral flexia IFP

Anamneza dificila!!

Biologic

VSH= 12 mm/h

CRP=2.14 mg/l

HB=13.8 g/dl

GA= 18100/ mmc

LYM= 40.6 % (7360/mmc)

TR= 626.000/mmc

Colesterol= 265 mg/dl

Trigliceride= 273 mg/dl

TGO=43.63 U/L

TGP=17.94U/L

GGT=100.68 U/L

Sumar de urina- normal

Ac anti HCV, Ag HBs- negativi

Imunologic

Osteodensitometrie DXA

Osteodensitometrie DXA

Consult neurologic: sdr cefalalgic cu elemente

vestibulare. Rec Propranolol 10 mgx2/zi si Betaserc

24 mgx2/zi.

SLEDAI=4

DIAGNOSTICELE LA EXTERNARE

LES cu manifestari articulare, cutanate, imunologice si

neurologice Osteoporoza secundara de etiologie mixta Sdr Cushing iatrogen Tetanie cronica latenta Hipertensiune arteriala secundara Cardiomiopatie hipertrofica concentrica Insuficienta mitrala gradul I-II Insuficienta aortica gradul I Cecitate partiala OD Deficienta mentala usoara Sdr cefalagic cu elemente vestibulare Dislipidemie mixta

Tratament la domiciliu

Imuran 50 mg/zi

Prednison 20 mg/zi cu scaderea progresiva a dozelor

pana la oprire (in 3 luni)

Plaquenil 200 mg/zi

Nifedipin 50 mg/zi

Fosavance 70mg/5600 UI- 1 cp/sapt

Calciu lactic 1g/zi, 15 zile/luna

Propranolol 10 mgx2/zi

Betaserc 24 mgx2/zi

Factori de prognostic

negativ

Varsta tanara de

debut

hipercolesterolemia, HTA, corticoterapia

Statut socio-

economic

precar

Afectarea de

organ-

neuropsihiatric

corticoterapia,

dieta saraca in

Ca, greutate scazuta

Particularitatea cazului

Patients with childhoodonset

SLE fulfilling ACR 1997 criteria were identified

in a nationwide register-Reuma.pt/SLE (N = 89) and

compared with adult-onset and late-onset counterparts

matched 1:1:1 for disease duration. 267 SLE patients with

mean disease duration of 11.9 ± 9.3 years were analyzed.

Girls with cSLE overexpressed an interferon (IFN)-α signature that

was absent in boys. Boys with cSLE were observed to overexpress

tumour necrosis factor-related genes that were absent in girls. Both

boys and girls were observed to overexpress several genes related

to granulopoeisis.

Hydroxychloroquine is indicated for disease manifestations of all severities and can be used as monotherapy in mild disease.

Immunosuppressants, including azathioprine and methotrexate, are used in mild to moderate manifestations.

Mycophenolate mofetil is widely used for lupus nephritis.

Cyclophosphamide remains the first-line treatment for patients with severe organ disease.

No biologic therapies have yet been approved for cSLE, although they are being used increasingly as part of routine care of patients with severe lupus nephritis or with neurological and/or haematological involvement.

Drugs influencing B cell survival, including belimumab and rituximab, are currently undergoing clinical trials in cSLE.