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Phase 2a > SUGER > Flashcards

SUGER Flashcards

1
Q

What is renal glycosuria

A

-Disorder of the proximal tubule where glucose is not reabsorbed

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2
Q

Give the defect, mechanism, clinical features and treatment of renal glycosuria

A
  • defect= sodium glucose transporter 2 (SGLT2)
  • mechanism = failure of glucose reabsorption in proximal tubule
  • clinical features = incidental finding on testing, benign
  • treatment = SGLT2 inhibitors (e.g empagliflozin) now established as treatments for type 2 diabetes
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3
Q

What is aminoaciduria (e.g cystinuria)

A

Disorder in the proximal tubule where amino acids like cystine are not reabsorbed

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4
Q

Give the defect, mechanism and clinical features of cystinuria

A
  • defect = renal basic amino acid transporter (rBAT)
  • mechanism = failure of cystine reabsorption, increased urinary cystine concentration which can lead to stone formation
  • clinical features = renal colic, recurrent stone formation
  • treatment =
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5
Q

Give the treatment of cystinuria

A
  • high fluid intake = causes high urine flow and lower concentration of cystine
  • alkalinise urine = increases solubility of cystine
  • chelation = through penicillamine, captopril
  • management of individual stones = percutaneous treatment, surgery
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6
Q

What is hypophosphataemic rickets

A

Disorder of the proximal tubule where phosphate is not reabsorbed

The commonest form is the x linked hypophosphataemic rickets (XLH)

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7
Q

Give the defect, mechanism, clinical features and treatment of hypophosphataemic rickets (XLH)

A
  • defect = PHEX gene - zinc dependent metalloprotease
  • mechanism = PHEX mutation causes increased FGF-23 levels which leads to decreased expression and activity of the NaPi-2 in the proximal tubules
  • clinical manifestation = bow legged deformity, impaired growth
  • treatment = phosphate replacement
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8
Q

What is type 2 renal tubular acidosis

A

Disorder in the proximal tubule where bicarbonate is not reabsorbed

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9
Q

Give the defect, mechanism, clinical features and treatments of type 2 renal tubular acidosis

A
  • defect = sodium/hydrogen antiporter
  • mechanism = failure to bicarbonate reabsorption
  • clinical features = acidosis, impaired growth
  • treatment = bicarbonate supplementation
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10
Q

What can defects in carbonic anhydrase produce

A

-mixed proximal/distal renal tubular acidosis

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11
Q

What drug can be used to inhibit carbonic anhydrase and when might this be useful

A

acetazolamide

  • causes mild diuretic effect and induces a metabolic acidosis
  • used to treat altitude sickness because it allows rapid compensation of respiratory alkalosis
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12
Q

What is fanconi syndrome

A

Multiple disorders of reabsorption in the proximal tubule

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13
Q

Give the cause, mechanism and clinical features of fanconi syndrome

A
  • cause = genetic (e.g cystinosis, Wilson’s disease), myeloma, lead poisoning, cisplatin
  • mechanism = generalised proximal tubular dysfunction possibly due to failure to generate sodium gradient by Na/K ATPase
  • clinical features = glycosuria, aminoaciduria, phosphaturic rickets, renal tubular acidosis
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14
Q

What is Barrter’s syndrome

A

Disorder in the thick ascending limb of the loop of Henle

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15
Q

Give a defect and mechanism of Barrter’s syndrome

A
  • defect = NaKCC2, ROMK, ClCKa/b, Barrtin
  • mechanism = failure of sodium, potassium and chloride cotransport in thick ascending limb, salt wasting, hypokalaemic alkalosis due to volume contraction, failure of voltage dependent calcium and magnesium absorption
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16
Q

Give clinical feature of Barrter’s syndrome

A

Antenatal - polyhydramnios, prematurity, delayed growth, nephrocalcinosis
Classical - delayed growth, polyuria, polydipsia
Similar effects to loop diuretics (e.g furosemide, bumetanide)

17
Q

What is Gitelman’s syndrome

A

Disorder of the NCCT (thiazide sensitive chloride channel) in the distal tubule

18
Q

Give the defect, mechanism and clinical features of Gitelman’s syndrome

A
  • defect = NCCT (thiazide sensitive chloride channel)
  • mechanism = failure of sodium/chloride cotransport in distal tubule, hypokalaemic alkalosis due to volume contraction, impaired magnesium absorption, increased calcium
  • clinical features = polyuria, polydipsia, tetany
19
Q

Give the defect, mechanism and causes of type 1 (distal) renal tubular acidosis

A
  • defect = luminal H+ ATPase or H+/K+ ATPase
  • mechanism = failure of H+ excretion and urinary acidification
  • causes = genetic (e.g Sjogren’s syndrome) and acquired (e.g chronic pyelonephritis, drugs - amphotericin)
20
Q

Give the effects of excessive aldosterone activity

A
  • sodium retention
  • hypertension
  • hypokalaemic alkalosis
21
Q

Give a primary and secondary of excessive aldosterone production

A

Conn’s syndrome (primary)

Renal artery stenosis (secondary)

22
Q

Give the defect, mechanism, clinical feature and treatment of glucocorticoid remediable aldosteronism

A
  • defect = chimeric gene - 11beta hydroxylase and aldosterone synthetase
  • mechanism = aldosterone is produced in the adrenal in response to ACTH so levels inappropriately high
  • clinical feature = sodium retention,hypertension, hypokalaemic alkalosis
  • treatment = suppress ACTH using glucocorticoids
23
Q

Give the defect, mechanism, clinical features and treatment of liddle’s syndrome

A
  • defect = activating mutation of ENaC
  • mechanism = sodium channel always open so constant aldosterone like effect
  • clinical features = sodium retention, hypertension, hypokalaemia alkalosis
  • treatment = amiloride (blocks ENaC)
24
Q

Give the defect, mechanism, clinical features and treatment of syndrome of apparent mineralocorticoid excess (AME)

A
  • defect = 11-beta hydroxysteroid dehydrogenase
  • mechanism = cortisol not broken down in the renal tubules, therefore activates mineralocorticoid receptor
  • clinical features = sodium retention, hypertension, hypokalaemic alkalosis
  • treatment = spironolactone (mineralocorticoid receptor antagonist)
25
Q

Give the defect, mechanism and treatment of type 4 (hyperkalaemic distal) tubular acidosis

A
  • defect = low aldosterone levels
  • mechanisms = reduced generation of electrochemical gradient, resulting in failure of H+ and K+ excretion
  • treatment = diuretics or fludrocortisone

Common in elderly patients with diabetes

26
Q

Give the defect, mechanism, clinical feature and treatment of nephrogenic diabetes insipidus

A
  • defect = vasopressin V2 receptor or aquaporin 2 water channel
  • mechanism = failure of water reabsorption in the collecting duct, resulting in inability to concentrate urine
  • clinical features = polyuria, polydipsia, hypernatraemia
  • treatment = tolvaptan - a V2 receptor antagonist that induces polyuria and free water loss (aquaresis), also reduces cyst formation/progression in adult polycystic kidney disease
27
Q

What is Turner syndrome

A

45x

28
Q

What is Klinefelter syndrome

A

47xxy

29
Q

What is androgen insensitivity syndrome

A

46xy but intersex genetalia
Not responsive to testosterone (DHT)
X-linked recessive

30
Q

What is congenital adrenal hyperplasia

A

Autosomal recessive

95% are due to 21 hydroxylase enzyme deficiency

31
Q

Causes of precocious (early) puberty

A

Gonadotrophin dependent

  • intracranial lesions, infections, encephalitis
  • gonadotrophin secreting tumours
  • hypothyroidism

Gonadotrophin independent

  • congenital adrenal hyperplasia
  • sex hormone secreting tumours
  • estradiol (E2) ingestion

Other variants

  • premature thelarche (breast development)
  • premature adrenarche (acne, body odour, pubic hair and other androgen changes)
32
Q

Treatments of precocious puberty

A
  • excluding lesions, infections and tumours
  • do nothing
  • inhibit puberty with gonadotrophin analogues
  • androgen receptor blockage for premature adrenarche
33
Q

Causes of delayed puberty

A

General

  • constitutional delay (temporary delay in skeletal growth)
  • malabsorption (coeliac disease, inflammatory bowel disease)
  • chronic disease or being underweight

Gonadal failure

  • turner syndrome
  • iatrogenic
  • polyglandular
  • autoimmune syndrome

Gonadotrophin deficiency

  • Kallman’s syndrome
  • Hypothalamic/pituitary lesions
34
Q

What is Kallman’s syndrome and what causes it

A
  • causes hypogonadotropic hypogonadism and an impaired sense of smell
  • hypogonadotropic hypogonadism affects the production of the hormones needed for sexual development
  • present from birth
  • caused by deficiency of gonadotrophin-releasing hormone (GnRH)
35
Q

Give some symptoms of Kallman’s syndrome

A
  • small penile size
  • undescended or partially descended testicles
  • facial defects e.g cleft lip or palate
  • short fingers or toes especially the 4th finger
  • hearing loss
  • development of one kidney
  • colour blindness
36
Q

Treatment of delayed puberty

A
  • excluding tumours, non-constitutional causes then do nothing
  • sex hormone treatment
  • growth hormone therapy
  • treatment of associated infertility with pulsatile gonadotrophin releasing hormone or hMG (containing LH and FSH) or donated gametes for IVF or ICSI

Phase 2a (6 decks)

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