Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MRCP > Metabollic diseases > Flashcards

Metabollic diseases Flashcards

1
Q

hyper PTH

A

most common;ly single PTH adenoma

results in increased activity of osteoblasta and osteoclasts –> WOVEN BONE, icreased resorption cavities (osteitis fibrosa cystica and marrowfibrosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

secondary hyper PTH Mx

A

PO4- binders and aVit D

Cinacalcet in advanced dx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Acute hypercalcaemia mx (>3mmol)

A

IVI
IV Bisphosphonates - pamidronate
identif specific cause ++ it’s tx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

HypoCa - causes

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Rickets w/o Vit D deficiency and a normal Ca - What ios it?

A

X linked Dominant hyppophosphataemic vitamin D -resistant rickets.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Hypocalcaemia management

A

IF sec –> Sx with tetany/seizure –> IV Ca Gluconate

otherwise:

  • Po Ca
  • Vit D
  • Mg replace
  • Thiazide diuretic and low -Na diet.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Hypercalciuria

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Osteomalacia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Paget’s dx of the bone

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Alkaptonuria

A

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/
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cystinosis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Cystinuria

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

homocystinuria

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Oxalosis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Phenylketonuria

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Disorders fof purine synthesis

A

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
17
Q

Porphyria - what is it

A

Abnormality in enzymes responsible for haem production. –> inc in intermediate products = porphyrins

18
Q

Acute intermittent porphyria

A

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
19
Q

Porphyria Cutanea Tarda

A

HEPATIC porphyria

Caused by damage to hepatocytes - ETOH/Oestrogenes

Ft = CUTANEOUS

  • photosensitive rash w/ bullae
  • Skin fragile

Urine = PINK on WOOD LAMP

Mx:
- Chloroquine.

20
Q

Famuiilial Hypercholesteraemia

A

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

21
Q

Hyperlipidaemia xanthomata

A

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
22
Q

Remnant hyperlipidaemia

A

Mix of high Chol and high TG

  • yellow palmar creas
    e- palmar xanthomata
  • tendon xanthomata

Mx - FIBRATES

23
Q

Hyperlipidaemia - secondary causes

A

High TG:

  • db 1/2
  • obesity
  • LFx
  • EtOH
  • Drugs - thiazides/ non-selec beta blocker/ unopposed oestrogen
  • CKD

High Chol

  • Nephrotic syndrome
  • hypothyroid
  • cholestasis
24
Q

Hyperlipidaemia Mx - primary prevention who gets it

A

<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

25
Q

Hyperlipidaemia - Qrisk understimates if:

A

HIV
mental health
drugs –> dyslipidaemia = antipsych/steroids/IS
AI diseases.

26
Q

specialist referral for hyperlipidaemia

A

Familial hypercholesterolaemia

Lipid >9.6 or non-HDL >7.5

27
Q

Secondary prevention

A

if Known IHD or Cerber o-vasc dx or PAD -

Atorvastatin 80mg

28
Q

Statins - MOA

A

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

29
Q

Ezetimibe MOA

A

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
30
Q

Nicotinic Acid - MOA

A

INCREASE HDLs and decrease LDL

S.e.:
- Flushing
IGT
Myositris

31
Q

Fibrates MOA

A

Used in remnant hyperlipidaemia

PPAR - alpha receptor –> increase LPL activity

S.e = GI + VTE RISK

32
Q

Cholestyramine MOA

A

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
33
Q

In hyperlipidaemia what medication causes increased VTE risk

A

Fenofibrates

34
Q

High LDL and thyroid

A

Hypothyroid csn lead tohigh LDL

Decreased LDL catabolism and lipoprotein lipase activity

35
Q

Most common defects in hereditary spherocytosis

A

Spectrin and Ankyrin

OThers:
- Band 3 and protein 4.2

36
Q

acute hyponatraemia mx

A

If severe symptoms e.g. CNS arrythmia etc –> 3% saline (hyoertonic)

otherwise trial fluid restrict

MRCP (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions