TRH, TRH TSH, a. GH, PRL b.acth, FSH, LH, TSH GH PRL Kallmann KAL LHRH Laurence-Moon-Biedl AR Frohlich
Prader-Willi Hypotonia Hypogonadism Hypomentia Obesity Sheehan DIC T4 GH 80% Laron GH IGF-I GH GH acromegaly) GH
J-15 GH 10 ng/ml 5 ng/ml double floor ballooning heel pad thickness GH IGF-I -C IGF-I GH GH TRH, GnRH, CRH GH GH GH GH IGF-I P Ca FSH, LH Hardy II Chiari-Frommel Argonz del Castillo Frobes-Albright
10 mm MRI T2 10mm, anorexia nervosa 30-20% GH T3 reverse T3 low T3 T.Chol ADH ADH DI; diabetes insipidus)
ADH DI MRI T1 DI ADH ADH ADH receptor Ca, Li, K Na Na, Na, SIADH ADH ADH ADH Na K T3, T4, rt3 T3 80% T4 low T3
Basedow Af) Stellwag Mobius Grafe TSH C, C,C Chol CK-MM ChE TSH-R R ) R ) ChE ChE Plummer I123- hot nodule
C, C, L Chol CK-MM LDH TSA T3, T4 17-OHCS, 17-KS TSH T4 ESR,CRP CRP, ESR
CK-MM Chol LDH 70-80% PBC RA, SjS PBC B-42 SjS SS-A, SS-B F-69 T4 R ) Schmidt Addison TSH C
CEAMEN2A,2B MEN1 (PPP) Parathyroid, Pituitary, Pancreas MEN2A (PTA) Parathyroid, Thyroid, Adrenal MEN2B (NTA) Nerve, Thyroid, Adrenal 1,2 PPPTA PTA) 1 Ca Ca PTH V.D 3 ) PTH V.D 3 Ca, P PTH Ca P V.D3 Ca P Ca P Ca (ADH ADH Ca Li K Ca, P Ca, P QT Ca PTH camp II RTA PTH HCO3 K, P,Cl
K, P II RTA PTH II RTA I RTA I I RTA PTH PTH II RTA I RTA ALP3 MEN I MEN II I HAM HAM PTH Addison Ca PTH Ca, P
II ACTH K ACTH ACTH 17-KS 17-OH DHEA 17-OHP DOC 11- OHCS ACTH OHCS I II ACE
JG apparatus ADH ACTH, GH Cushing Cushing ACTH microadenoma) Ca Na K K 2mg) Cushing 8mg) 17-OHCS Cushing ACTH MRI/CT
17KS ACTH MRI/CT ACTH Cushing CRH ACTH Nelson ACTH ACTH Barter-Gitelman Barter Liddel 17-OHCS, 17-KS Na K Ca K Li K Barter Na-K-2Cl
Gitelman Mg Ca Na-Cl Barter Liddel Na Addison Schmidt Addison
ACTH Addison Basedow Waterhouse-Friderichsen PC; pheochromocytoma 5H disease: Hypertension Hypermetabolism Hyperglycemia Headache Hyperhydrosis VMA, 17-OHP 21 11 17
MEN1 (PPP) Parathyroid, Pituitary, Pancreas MEN2A (PTA) Parathyroid, Thyroid, Adrenal MEN2B (NTA) Nerve, Thyroid, Adrenal 1,2 PPPTA PTA) 1 Zollinger-Ellison Langerhans 80% K Ca PTHMEN1 ZE Wipple's triad 50mg/ml hypervasculr
5-20 U/ml triad WDHA Watery Diarrhea, Hypokalemia K, Achlorhydria GHACTH) DM DM
DM 740 1620 40 10 1 DM 1.5 10 ICA: islet cell antibody GAD 1 DM MODY 75% C-1 20 g/day 200 mg/dl FBS (fasting blood sucrose) 126 mg/dl 75gOGTT (oral glucose tolerance test) 200mg/dl HbA1c 6.5% 75gOGTT 126 200 110 140 HbA1c 6.5 4.3-5.8%) DM DM 25
25kcal/kg 30kcal/kg 35 kcal/kg (kcal/day) 1000+(age-1)x100 11 2000kcal FBS>250mg/dl HbA1c>9%) SU BG MODY: maturity-onset diabetes of the young) 25 DM DM DM 1 DM DM DM
Kussmaul ph HCO3 BE PCO2 0.9% K K HCO3 GI glucose-insulin K DM 0.45% DKA K K Ca GI Ca
330mOsm/l 4ml x (kg) x (%) 24 100ml/kg) K
I, III, IV, VI, VIII II, III, V, VII I von Gierke I, III II Pompe Wilson IV I GAG) Hurler, Hunter, Morquio Hunter Hunter Morquio
TG TC: 220 240 TG: 150 LDL: 160 TC>220, LDL>160, TG>150 CM, VLDL, IDL, LDL, HDL origin, pre-, pre- +, origin, pre =LDL pre V CM, VLDL, IDL, LDL, HDL TG Chol B-100 B-100 B-100 E E E C C A-1 CM VLDL IDL LDL HDL HDL-Chol HDL
TC>220, LDL>160, TG>150 HDL 40 R ) TG IIa IIb III IV V I LDL, LDL VLDL, IDL, VLDL, VLDL CM, CM C C,T C,T T T T PBC IIa)IV CM VLDL TG LDL C LDL: VLDL: CM: Friedewald LDL=TC-HDL-1/5TG AIP) -ALAPBG
SIADH Wilson AR Kayser-Fleischer Fanconi Wilson D- Menkes Cu Cu Cu Wilson, Menkes, PBC Wilson Cu Cu Menkes Cu Cu PBC Cu Cu 25%) Wilson
CT MRI (T2) low PRPP HGPRT de novo salvage de novo PRPP salvage HGPRT 3-7 mg/dl; 2.5-6.5 mg/ml 8 mg/dl Ca ACE Lesch-Nyhan HGPRT
J-46 4-8Hz; pill rolling) Wilson base excess (B.E. 0 2 meq/l anion gap (AG) = [Na + ]-([Cl - ] +[HCO 3- ]) 12 2 meq/l [HCO - 3 ] 24 2 meq/l Ca 8-10 mg/dl K4 meq/l
AG KUSSMAL K DKA U uremia S S sepsis M A L lactic K K T QRS K T U Ca QT Ca QT K Ca GI Ca Na Na CPM; central pontine myelinolysis) Na Ca Mg Ca hyperventilation ADH Ca, Li, K Ca Na Na DEKA A: D:
E: K: II, IX, VII, X B1 Wernicke B2 B6INH B12 C: