Metabollic diseases Flashcards
hyper PTH
most common;ly single PTH adenoma
results in increased activity of osteoblasta and osteoclasts –> WOVEN BONE, icreased resorption cavities (osteitis fibrosa cystica and marrowfibrosis.
secondary hyper PTH Mx
PO4- binders and aVit D
Cinacalcet in advanced dx
Acute hypercalcaemia mx (>3mmol)
IVI
IV Bisphosphonates - pamidronate
identif specific cause ++ it’s tx
HypoCa - causes
Decreased absorption:
- HypoPTH
- HypoVit D
- malbsorption
- sepsis
- Dluoride poisoning
- HypoMg
Acute resp alkalosis
Hyperphosphataemia:
- CKD
- PO4- admin
- Rhabdomyolysis
- Tumour lysis syndrome
Deposition of Ca:
- Pancreatitis
- hungry boine syndrome
- EDTA infusion
- Rapid growing osteoblastic mets
Rickets w/o Vit D deficiency and a normal Ca - What ios it?
X linked Dominant hyppophosphataemic vitamin D -resistant rickets.
Hypocalcaemia management
IF sec –> Sx with tetany/seizure –> IV Ca Gluconate
otherwise:
- Po Ca
- Vit D
- Mg replace
- Thiazide diuretic and low -Na diet.
Hypercalciuria
most common cause of kidey stones and contributes to development of osteoporosis.
Causes:
Absoptive:
- Xs Ca ingestion
- milk alkali syndrome
- Vit D xs
- Sarcoidosis
Renal:
- medullar sponge kidney
- Dent’s dx
- Barters
- AD hypercalciuric hypocalcaemia
Resorptive:
- hytperPTH
- MEN 1 –> PTH
Miscellaneous:
- RTA
- Hyperthyroid
- prolong immobilisation
- paget’s
- pregnancy
Mx
- dietary ca restriction
Osteomalacia
Normal bony tissue w/ decreased mineral density
Its called
- Rickets when growing
- Osteomalacia when adult
Types:
- Vit D deficiency
- RFx
- Anticonvulsants
- Vit D resistant
- Liver dx –> cirrhosis
Inx:
- Low Vit D - ALL PATIENTS
- Raised ALP
- low Ca/PO4-
Xray:
- Children - cupped, ragged metaphyseal surfaces
- Adults - translucent bands - Looser’s Zones or pseudofractures.
Tx:
- Ca w/ Vit D tablets
Paget’s dx of the bone
OLDER MALE WITH BONE PAIN AND RAISED ALP
Pagets dx - increase osteoclast activity –> Xs Bone turnover.
RF:
- increased age
- male sex
- borthern latitiude
- FHx
Ft - only 5% of patients:
- pain as above - pelvis, femur or lumbar spine
- untx –> Bowing of tibia and bossing of skull
- Raised ALP with N - Ca/PO40
- increased serum and urine - Hydrocyprolline
Xray:
- Skil - Thickened vault
- osteoporosis circumscripta
Indications for Tx: BOEN PAIN/DEFORMITY/FRACTURE / PARIARTICULAR PAGETS.
Tx:
- Bisphosphhonate - Po Risedronate or IV Zoledronate
- calcitonin
Complication:
- Deafness - CN entrapment
- bone sarcoma
- #
- skull thickening
- high output cardiac fx
Alkaptonuria
AR - lack of homogenistic dioxygenase –> increase in toxic homogenisitic acid.
HA = secreted by kidneys –> BLACK URINE
Ft:
- pigmented skin
- Black urine
- Vetebral disc –> Calc –> back pain.
- Renal stones
Mx:
- high dose Vit C
- Low dietary phenylalanine/tyrosine/
Cystinosis
Lysosomal sorage dx.
AR
Defect in cysteine transport = CTNS gene
Ft:
- onset 1st year if life
- CKD by 10 yrs !!!!!
- ocular crystals
- fanconi syundrome
- LN
- growth retardation
- hypothyroid
- BM fx
- low insulin
DO NOT GET RENAL STONE
Cystinuria
Defect in COLA
- cysteine/orthinijne/Lysinine/Arginine
Ft:
- recurrent RENAL STONES = yellow pigmented and smei-opaque.
Inx:
- Cyanide-Nitroprusside tes
Mx:
- hydration
- D-penicillamine
- Urinary alkalinisation
homocystinuria
AR - low cystathione-beta-synthase
Ft - "HOMO": Hair fine and thin Ocucular - doward dislocation Marfan's like Neur-O- LD/seizure
inx - cyanide-nitroprusside test
Mx:
- Vit B6 = Pyroxidine
Oxalosis
2 types that lead to an inborn error of oxalate metabolism –> renal stones + ST deposits
Ft:
- OXALATE RENAL STONES
- deposits in arteries
- Nephrocalcinosis
- Cardiac dx
Inx:
- raised plasma andf urinary xalate
- Liver biopsy - type 1
- periph blood leucocytes - type 2
Mx:
- Hydration
- Urinary Ca Crystillisation inhibitors
Pyridoxine
Phenylketonuria
AR –> Phenylalanine metabolism reduced
Ft:
- blue eyed child with fair hair who smells bad, is slow and fits.
- blue eyes + fair hair
- developemental delay
- Infantil spasms
- Must odour
L.D.
Inx - Guthrie trest
Mx:
- low materal phenylalanine diet
Disorders fof purine synthesis
Gout:
- CKD / Diuretics / lead
Lesch-nyshan: - Decreased HGPRTase - X linked recessive --> affects males ft: - Gout - RFx - Neurodeficit/LD - self mutilation
High prod of uric A:
- myeloprolif/lymphoprolif
- cytotoxics
- sev psoriasis
Porphyria - what is it
Abnormality in enzymes responsible for haem production. –> inc in intermediate products = porphyrins
Acute intermittent porphyria
AD - defect in HBMS gene
Ft:
- Female in 20-40 –> abdo pain + neuropsychiatric
- HTN/Tachy
- urine = DEEP RED on STANDING
- periph neuropathy
4Ps!!!!!!!!!!!!
- Painful abdo
- periph neuropathy
- psychological disturbance
- Port-wine urine
Triggers- these inc haem production:
- EtoH
- Starvation
- Drugs that increase cytochrome P450
Porphyria Cutanea Tarda
HEPATIC porphyria
Caused by damage to hepatocytes - ETOH/Oestrogenes
Ft = CUTANEOUS
- photosensitive rash w/ bullae
- Skin fragile
Urine = PINK on WOOD LAMP
Mx:
- Chloroquine.
Famuiilial Hypercholesteraemia
Adults:
-suspect if TC > 7.5
or
-FHx of Early CVD
Child:
- 1 paret with FH - teast at 10 yrs
- 2 parents w/ FH –> test at 5
Diagnosis - Simon broome criteria:
Adult - TC> 7.5 or LDL >4.9
Child - TC >6.7 or LDL >4.0
Definite FHx - Tendon Xanthalasma in 1/2 degree relative
Possible FHx :
- Early CVD - secondary <50 or primary <60
- FHx of high cholesterol/
Mx:
- DONT USE QRISK
- Riferral –> high dose statins
- Screen family
remember - stop stating 3/12 before conception
Hyperlipidaemia xanthomata
Palmar:
- Remnant hyperlipidaemia
- (FH)
Eruptive - multiple red/yellow vesicles one xtensor surface
- Familial hypercholesterolaemia
Tendon/tuberous/Xanthelasma:
- Familial
- (remnant)
Mx:
- Surgicla excision
- Topical trichloroacetic acid
- laser therapu
- electro-dissection
Remnant hyperlipidaemia
Mix of high Chol and high TG
- yellow palmar creas
e- palmar xanthomata - tendon xanthomata
Mx - FIBRATES
Hyperlipidaemia - secondary causes
High TG:
- db 1/2
- obesity
- LFx
- EtOH
- Drugs - thiazides/ non-selec beta blocker/ unopposed oestrogen
- CKD
High Chol
- Nephrotic syndrome
- hypothyroid
- cholestasis
Hyperlipidaemia Mx - primary prevention who gets it
<85 + QERISK >10%
DB1 + 1 of:
- > 40 yrs
- dx >10 yrs
- CVD
- NEphrotic
CKD
MX:
1) lifestyle
2) Atorvostatin 20mg
f/u in 3/12 –> in non-HDL fall by <40% and eGFR >30 –> increase dose
Hyperlipidaemia - Qrisk understimates if:
HIV
mental health
drugs –> dyslipidaemia = antipsych/steroids/IS
AI diseases.
specialist referral for hyperlipidaemia
Familial hypercholesterolaemia
Lipid >9.6 or non-HDL >7.5
Secondary prevention
if Known IHD or Cerber o-vasc dx or PAD -
Atorvastatin 80mg
Statins - MOA
HMG-CoA reductase inhibitor. = rate limit step in cholesterol syynth ,.
S.e.:
- Myopathy - RF = old femal = thin with multisystem dx - more common with atorvo/simvastatin –> therefore put on prava/rovustatin
- Liver impaiurment - Check LFT @ BL, 3/12 and 12/12 - Discontinue if transaminase >3x ULN!!!!
CI –> MAcrolides - erythro/clarithromycin –> increased myopathy
Ezetimibe MOA
deecreasesd cholesterol abs in SI
Ezetimibe = 1st line if HIGH CHOL + STATIN CI/NOT TOLERATED
Additional to statin if:
- LDL not controlled despite inc statin dose or inc dose not tolerated.
- or if considering change to alt stsatin can use ezetimibe
Nicotinic Acid - MOA
INCREASE HDLs and decrease LDL
S.e.:
- Flushing
IGT
Myositris
Fibrates MOA
Used in remnant hyperlipidaemia
PPAR - alpha receptor –> increase LPL activity
S.e = GI + VTE RISK
Cholestyramine MOA
Decrease bile acid reabsorption –> Cholesterol broken down and not absorbed
- mainly reduced LDL
S.e:
- Abdo cramp/constipation
- decreas abd of fat soluble vitamins
- Cholesterol gall stones
- Raised TG
In hyperlipidaemia what medication causes increased VTE risk
Fenofibrates
High LDL and thyroid
Hypothyroid csn lead tohigh LDL
Decreased LDL catabolism and lipoprotein lipase activity
Most common defects in hereditary spherocytosis
Spectrin and Ankyrin
OThers:
- Band 3 and protein 4.2
acute hyponatraemia mx
If severe symptoms e.g. CNS arrythmia etc –> 3% saline (hyoertonic)
otherwise trial fluid restrict
