Revision Guide for Medicine

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As Shakespeare said "what's in a name?"



Browse the glossary using this index

Special | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O
P | Q | R | S | T | U | V | W | X | Y | Z | ALL

A

Alport's syndrome

:

described in the bmj in 1927 by Dr Cecil Alport

 

a type IV collagen disorder (found in the glomerular basement membrane)

variable inheritance, presentation is with:

  • haematuria
  • nephritis
  • hearing problems (2/3) - high frequency sensorineural loss
  • visual problems (1/3) - the lens protrudes anteriorly

Keyword(s):

D

Di George syndrome

:

deletion of 22q11.2 (3rd & 4th pharangeal pouches don't develop)

problems with:

  • thymus
  • parathyroids
  • cardiac abnormalities
  • palate deformities

CATCH 22 (cardiac abn, abn face, thymus aplasia, cleft palate, hypocalcaemia, Chr 22)

Keyword(s):

F

Fanconi syndrome

:

allegedly never described by Guido Fanconi who did describe the entirely different Fanconi anaemia (a genetic disease of short people)

Fanconi syndrome is a defect of proximal renal tubular cells with many causes

They have a type II renal tubular acidosis (bicarb is not resorbed by the poorly functioning prox tubule)

They also have proteinuria, glycosuria, phosphaturia, uricosuria & aminoaciduria - rickets is a feature (because phosphate is lost)

Keyword(s):

K

Kallmann syndrome

:
Kallmann syndrome is a condition of low GnRH with anosmia. Embryologically the neurons which migrate to the hypothalamus start at the same place as those which become smell receptors. The patient turns out small with small genitals. Much psychological impact (and they can't smell their own body odour..) Treatment is by hormone replacement, and GnRH infusion pumps can help with subfertility issues. Named after a german geneticist. Two 'n's
Keyword(s):

Koebner phoenomenon

:
Koebner phoenomena refer to skin lesions occurring at the site of trauma. First described by Heinrich Koebner in psoriasis, they can occur in Still's disease, viral warts and lichen planus too
Keyword(s):

L

Lambert-Eaton syndrome

:

A generalised defect of ACh release from the presynaptic terminals (antibodies to the voltage gated calcium channels)

Tends to affect men with small cell lung cancer who've smoked for a long time (also breast... and 50% are idiopathic)

It differs from myasthenia gravis in that the muscles tend to be axial and girdle. Autonomic disturbances are found and the deep tendon reflexes are absent (though they return after exercise) - so EMG with repetition shows an improvement in response

M

McArdle's disease

:

described in 1951 by Dr Brian McArdle of Guy's Hospital, London

A glycogen storage disorder of myophosphorylase deficiency

Patients get painful reduction in exercise level with cramps and rhabdomyolysis. They may get a second-wind after resting.

If tested after exercise - they fail to show the expected rise in lactic acid

N

Nelson's syndrome

:
Described by an American endocrinologist in the 1960's

This is where a pituitary adenoma sitting quietly, suppressed by Cushing's syndrome comes to life. After bilateral adrenalectomy, this beast is unleashed causing local squashing and increased pigmentation (increased ACTH and Melanocyte stimulating hormone release)

V

von Gierke's disease

:

Edgar von Gierke (a German doctor) described this type I glycogen storage disorder. There is a deficiency in glucose-6-phosphatase, so the liver cannot mobilise glucose form glycogen or gluconeogenesis. The patient has

  • hypoglycaemia
  • hypertriglyceridaemia
  • hyperuricaemia
  • lactic acidosis
Keyword(s):