Metabollic diseases Flashcards
(36 cards)
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
