Rogue syndromes Flashcards
What is the inheritance of Bartter’s syndrome?
Usually autosomal recessive
What does Bartter’s syndrome cause?
Severe hypokalaemia due to defective NA-K-Cl co-transporter at ascending loop of Henle
What are the features of Bartter’s syndrome?
Hypokalaemia - muscle weakness
Normotension
Polyuria, polydipsia
Normally presents in childhood - failure to thrive
What is the inheritance of galactosaemia?
Autosomal recessive
What does galactosaemia cause?
Intracellular accumulation of galastose-1-phosphate due to absence of galastose-1-phosphate uridyl transferase
What are the features of galactosaemia?
Jaundice, failure to thrive
Hepatomegaly
Cataracts
Hypoglycaemia after exposure to galactose
Falcon syndrome
What is Gittelman’s syndrome?
Defect in thiazide sensitive NaCl transporter in distal convoluted tubule
What are the features of Gitelman’s syndrome?
Normotension
Hypokalaemia
Hypomagnasaemia
Hypocalciuria
Metabolic alkalosis
What is the inheritance of Kallman’s syndrome?
C linked recessive
What is Kallman’s syndrome?
Failure of GnRH secreting naurons to migrate to hypothalamus causing hypogonadotropic hypogonadism
What is the classic presentation of Kallman’s syndrome?
Delayed puberty and anosmia
What is seen on bloods with Kallman’s syndrome?
Sex hormones: low
FSH and LH: low
What is Kallman’s syndrome associated with?
Cleft lip/palate
Visual/hearing defects
What is the karyotype of Klinefelter’s syndrome?
47XXY
How is Klinefelter’s syndrome diagnosed?
Chromosomal analysis
What are the features of Klinefelter’s syndrome?
Tall
Lack of secondary sexual characteristics
Small, firm testes
Infertility
Gynaecomastia
What is seen on bloods in Klinefelter’s syndrome?
Elevated gonadotrophin levels (LH)
Low testosterone
What is Klinefelter’s syndrome?
Primary hypogonadism
What is Liddle’s syndrome?
Disordered sodium channels at distal tubules, leading to increased reabsorption of sodium
What is the inheritance of Liddle’s syndrome?
Autosomal dominant
What is the treatment of Liddle’s syndrome?
Amiloride or triamterene
What is the inheritance of Pendred’s syndrome?
Autosomal recessive
What is Pendred’s syndrome?
Defect in organification of iodine, causing dyshormogenesis
What are the features of Pendred’s syndrome?
Progressive bilateral sensorineural hearing loss with mild hypothyroidism and goitre
