I DEFICITE ENZIMATICE e4m17mk
1. EDEMUL ANGIONEUROTIC EREDITAR a) Boal` autosomal dominant`Deficit INH C1q (esteraze)tip I - reduceretip II - deficit func\ional b) S. paraneoplazic - limfoame

CLINIC durere: - 50% la debut- 90% an evolu\ie ocluzie: - prin edem de perete
- diaree hidric` 20%
- febr`
- ascit`
- neutrofilie
- anse dilatate
- angroiarea pliurilor

DIAGNOSTIC

C1 INH < 22 mg%
C4 < 15 mg%

TRATAMENT:
DANAZOL 1 -; 400 mg/zi
CONCENTRATE C1INH
PLASMI PROASPITI CONGELATI

2. PORFIRIA ACUTI
DOMINANT: PA intermitent`
P. variegatacoproporfirinemie
INCIDEN|A: 1‰
CLINIC: - DURERI INTENSE
- GREA|I
- VIRSITURI
- FEBRI 10 -; 40%

ALTE SEMNE: TAHICARDIE
HTA
Hipo TA
Transpira\ie
Reten\ie de urin`
Leucocitoz`
NEUROLOGIC: - PARALIZIE FLASCI
- N. CRANIENI
- CRIZE COMI|IALE
- COMI
- TULBURIRI PSIHIATRICE

URINA - ROSU “PORTO” ? NEGRU
- Ac ? AL
- PBG
- uro
- copro
TRATAMENT -; URGEN|E
CLORPROMAZINI 50 -; 100 mg
GLUCOZI 400 g/zi
HEME-;ARGINAT 4 mg/Kcorp/zi
SATURNISMUL
PATOGENIE - Pb blocheaz` sintezaglutationului ii enzimelorimplicate an sinteza hemului

CLINIC - colica saturnin` - dureri- v`rs`turi- diaree
- lizereul Burton- artralgii/mialgii
- tulbur`ri neurologice
- HTA

BIOLOGIC - ANEMIE HEMOLITICI
- GRANULA|II BAZOFILE
- Plumbemie > 250 mg/l
- Plumburie > 225 mg/l
- Plumburie provocat`
- Precursori
TRATAMENT

EDTA
C. FEBRA MEDITERANEANI
BOALI AUTOSOMAL RECESIVI C11 gena ME I - pepina- MARENOSTIN
INHIBITOR DE C5

CLINIC 1 ATACURI ACUTE FEBRILE
2 DURERI - ABDOMINALE
- ARTICULARE
- TORACICE
- CUTANATE

LABORATOR ? FIBRINOGENUL
? PCR
Amiloid AA
Proteinurie
An lichid ? INHIBITORUL C5

TRATAMENT COLCHICINI 1 - 2 mg
DICLOFENAC 75 mg

II DURERI METABOLICE a) HIPERLIPEMIE VLDL b) HIPERCALCEMIE c) HIPOKALIEMIE

III NEUROLOGICE a) EPILEPSIA DIGESTIVI b) MIGRENA ABDOMINALI

IV ENDOCRINE a) ADDISON - DURERI AN BARI- VIRSITURI- DIAREE (RECTORAGIE)- HIPOTENSIUNE - ? Na; ? K- ? glicemia b) DIABET c) FEOCROMOCITOM d) HIPOTIROIDIE e) HIPERTIROIDIE