DISORDERS OF URIC ACID METABOLISM Flashcards
PURINE DEGRADATION REVIEW
The end product of purine metabolism in humans is _______
uric acid.
PURINE DEGRADATION REVIEW
The nucleotide monophosphates (_____,_____,_____ ) are converted to their respective ______ forms (_____,________,______ ) by the action of __________.
AMP, IMP & GMP
nucleoside
adenosine, inosine & guanosine
nucleotidase
PURINE DEGRADATION REVIEW
The _____ group, either from AMP or adenosine, can be removed to produce _______ or _________.
amino
IMP or ionosine
PURINE DEGRADATION REVIEW
Inosine & guanosine are converted to _______ and ———- (______ bases) by purine ___________ —————.
________ is not degraded by this enzyme, it has to be converted to ______.
hypoxanthine & guanine
purine
nucleoside phosphorylase
Adenosine; inosine
PURINE DEGRADATION REVIEW
Guanine undergoes deamination by ______ to form ________.
____________ converts hyr.
guanase
xanthine
Xanthine oxidase
Uric acid metabolism
Normal blood level of uric acid
Females: ___-___ mg/dl.
Males: ___-____ mg/dl.
The daily excretion varies from ____-____ mg.
2 -5
3 -7
500 – 700
Nucleic acid content is (more or less?) in
non – vegetarian diet.
More
Uric acid is very soluble in water.
T/F
F
Uric acid is sparingly soluble in water.
.
HYPERURICEMIA
Hyperuricemia refers to an elevation in the ________ concentration.
This is sometimes associated with increased ___________ (_____uria)
serum uric acid
uric acid excretion
uricos
Purine Catabolism
Purine bases are converted first into ______ and then into _____ for excretion.
______________ catalyzes two steps in this process.
xanthine
urate
Xanthine oxidase
GOUT & PATHOPHYSIOLOGY
It is a metabolic disease associated with _____________ of _______
overproduction of uric acid.
GOUT & PATHOPHYSIOLOGY
At the physiological pH, uric acid is found in a __________ form as ___________.
more soluble; sodium urate.
GOUT & PATHOPHYSIOLOGY
In severe hyperuricemia, ______ of _______ get deposited in the ________ ,particularly in the _______.
Such deposits are commonly known as ______.
crystals of sodium urate
soft tissues; joints
tophi
GOUT & PATHOPHYSIOLOGY
Deposit of Tophi
This causes ______ in the joints resulting in a (painful or painless?) __________.
inflammation
Painful; gouty arthritis
GOUT & PATHOPHYSIOLOGY
Sodium urate or uric acid may also precipitate in ________ and ________ that results in ________ and _______ formation.
kidneys & ureters
renal damage & stone
Gout is of two types.
List
Primary Secondary
GOUT & ITS PATHOPHYSIOLOGY
Primary
Increased _____________
Mostly affecting the (males or females?)
production of uric acid
Males
GOUT & ITS PATHOPHYSIOLOGY
Primary
CAUSES:
Increase in substrate levels of _______
Increased ___________,
PP-ribose-P
nucleic acid turnover
GOUT & ITS PATHOPHYSIOLOGY
Primary
CAUSES:
Specific ——— ______ defects
_________
Deficiency of enzymes of ________
heritable enzyme
PRPP synthetase
salvage pathway.
GOUT & ITS PATHOPHYSIOLOGY
Primary
CAUSES:
Increase in substrate levels of PP-ribose-P, e.g. _______,________
Increased nucleic acid turnover, e.g. ——— (especially during _____), infection, __________ anaemias, psoriasis.
obesity, idiopathic.
tumors; treatment
chronic haemolytic
GOUT & ITS PATHOPHYSIOLOGY
Primary
CAUSES:
Specific heritable enzyme defects, e.g. ______ or ______ deficiency, _______________ overactivity.
Deficiency of _______ of _______
HGPRT or G6PD
PP- ribose P synthetase
enzymes of salvage pathway.
GOUT & ITS PATHOPHYSIOLOGY
SECONDARY; Is due to various diseases causing ____________ or _________
increased synthesis or decreased excretion of uric acid.
GOUT & ITS PATHOPHYSIOLOGY
SECONDARY : CAUSES
_____________ defect (the cause in the commonest form of primary gout)
Decrease in ___________
______ or _______ affecting _________
Specific renal tubular
renal functional mass
Drugs or metabolites
tubular secretion
GOUT & ITS PATHOPHYSIOLOGY
SECONDARY: CAUSES.
Decrease in renal functional mass, e.g. ___________ or _____________
Drugs or metabolites affecting tubular secretion, e.g. ———,________,________ (in low dosage), _______ ,_________
acute or chronic renal failure
thiazides, ethanol, salicylates
lactate, β-hydroxy- butyrate
RISK FACTORS
(Men or Women?) get gout more than (Men or Women?) by about _____ to ______.
Men; women
three to one.
How is gout diagnosed?
Diagnosis of gout usually involves:
A ___________ of the ______
________ of _________
_______ of ________ of an affected joint to ___________ of uric acid.
physical exam of the joints
X-rays of affected joints
Extraction of synovial fluid
look for crystals
Risk factors
Having one or more of the following conditions puts someone at a higher risk for gout.
_______ dysfunction
_______ disease
Obesity
High _______
High _________
____________
Kidney
Heart
cholesterol
triglycerides
Diabetes
A definitive diagnosis of gout requires that ____ of the following 12 markers must be present:
A ______
An episode of _______ in a ______
A history of ________________________
________ of the skin around a joint
_________ or _________ ——joint
________ of the ________ joint on _____ only
_____ of ______ joints on _____ only
6
tophus
arthritis in a single joint
more than one such episode of arthritis
Redness
Swollen or painful big toe
Inflammation; big toe ; one foot
Inflammation; one or more midfoot; one foot
A tophus (________ deposits in the joints or body)
Redness of the skin around a joint ( _____)
Swollen or painful big toe joint (the _______ or _______ joint)
urate crystal
erythema
metatarsophalangeal or MTP
A definitive diagnosis of gout requires that ____ of the following 12 markers must be present:
(Slow or Rapid?) joint _____ that reaches a maximum level within a _____ period
_______ levels of uric acid in the blood
An X-ray showing __________ in a joint
An X-ray showing ________ or ________ without any indication of prior inflammation
Joint _______ where the joint fluid tests _______ for infection.
6
Rapid; swelling; 24-hour
Elevated
uneven (asymmetric) swelling
joint cysts or bone erosions
inflammation; negative
TREATMENT OF GOUT
The drug ______ is used for primary gout
It is a _______ of _______ that _______vely inhibits enzyme _______
Changes in diet to avoid foods ___________ reduce the inflammation and pain in _____ cases.
Your doctor may also prescribe ______ (to alleviate pain and swelling).
Allopurinol
structural analog of hypoxanthine
competiti; xanthine oxidase
high in purines ; mild; NSAIDs
TREATMENT OF GOUT
For more severe gout, other medications are needed to lower the uric acid. These may include one or more of the following:
_______ (Uloric)
_________ (Colcrys)
_________ (Zurampic)
__________ (Zyloprim)
______________(Krystexxa)
Mnemonic: Fucking CLAP!
Febuxostat
Colchicine
Lesinurad
Allopurinol
Pegloticase
OTHER URIC ACID METABOLISM DISORDERS
Lesch-Nyhan syndrome
It is due to the deficiency of ___________________ an enzyme of ________
It is a/an (autosomal or sex linked?) metabolic disorder affects ______
hypoxanthine guanine phosphoribosyl transferase (HGPRT)
purine salvage pathway.
sex linked; only male
OTHER URIC ACID METABOLISM DISORDERS
Lesch-Nyhan syndrome
_______, _______ behaviour, _____ disability etc
Irresistible urge to __________, often causing _______
Mental retardation
aggressive ; learning
bite their fingers and lips
self mutilation.
OTHER URIC ACID METABOLISM DISORDERS
XANTHINURIA
____eased uric acid levels in the serum (___mg/dl) called as hyperuricemia
Mostly associated with a rare genetic defect in the enzyme ______
Leads to the _____eased excretion of ________ and _______
Decr
Less than 2
xanthine oxidase; incr
xanthine and hypoxanthine
OTHER URIC ACID METABOLISM DISORDERS
XANTHINURIA
Xanthinuria frequently causes the formation of ________ in the ________
xanthine stones
urinary tract.
