Renal + Urology Flashcards
Causes of Fanconi Syndrome?
- Congenital - Familial idiopathic, metabolic (cystinosis, tyrosinaemia, galactosaemia)
- Acquired - Aminoglycosides, sodium valproate, mercaptopruine, tubular necrosis
What is Fanconi Syndrome and how does it present?
General PCT disorder with preserved glomerular dysfunction –> wasting of substances
- Faltering growth
- Polyuria
- Rickets
- Metabolic acidosis
- Low phosphate
- Low potassium
Features of Bartter Syndrome
Thick ascdening limb loop of Henle
Presents early childhood. Growth disturbance, polyhydramnios, GDD.
High urine calcium, low serum magnesium
Increased Prostaglandin E2 secretion
Low K+, Cl-, metabolic acidosis.
Features of Gitleman Syndrome
DCT
Presents late childhood / early adulthood. Faltering growth. Frquent NM spasms / weakness.
Low urine calcium, low serum magnesium
Low K+, Cl-, metabolic acidosis.
Mechanism of renal tubular acidosis
- Bicarbonate wasting in PCT - Fanconi Syndrome
- Impairment in formation of Ammonia
- Renal failure - raised K+
- Distal RTA - failure to adequately secrete H+
Describe pathology and Sx of Posterior Urethral valves
Obstructive membranes that develop in the urethra, close to bladder
Present:
- UTI
- Poor stream urine
- Palpable abdo mass
- Faltering growth
- Renal failure
IX: USS, MCUG
Describe pathology and features of Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Recessive - PKHD1, 6p21-12
Presents:
- Large kidneys
- Severe oligohydramnios
- HTN
- Hypersplenism, oesophageal varices
- Cholanagitis - repeated sepsis
Describe pathology and features of Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Dominant - PKD1/2. More common.
Presents: later
- Large kidney on USS
- >2 cysts on USS +/- genetic testing
Complications: CVS, ESRF, HTN, pancreatic / liver cysts, intracranial aneurysms
Dehydrated causes of hyponatraemia
- GI loss
- Skin losses - CF, burns
- Hyperglycaemia
- Renal loss - diuretics, salt wasting
- Hypoaldosteronism
- Metabolic acidosis
Euvolaemic causes of hyponatraemia
- SIADH - infection, ventilation, tumours, trauma, post-op
- Enteral fluids
- Psychogenic polydipsia
- Meds: vincristine, anti-epileptics
Fluid excess causes of hyponatraemia
- IVT
- Nephrotic syndrome
- Cirrhosis
- HF
- Renal failure
- Obstructive uropathy
Causes of hypernatraemia
- Water deficit: GI/ skin / renal loss, dehydration, DI, hypothalamic dysfunction
- Na+ excess: Ingestion Na+, hypertonic saline, hyperaldosteronism eg Conn’s
What is Conn’s syndrome and how does it present?
Primary hyperaldosteronism –> adrenal glands make excess aldosterone. Eg adrenal tumour, adrenal hyperplasia
Presents:
- HTN +++
- Polydipsia and polyuria
- Muscle cramps and weakness
- Tingling
- Dizziness, blurred vision, headaches
What imaging is required in UTI <6 months?
- Responds well –> USS within 6 weeks
- Atypical / recurrent: USS at time, MCUG, DMSA 4-6m later
What imaging is required in UTI 6m - 3y?
- Responds well –> none
- Atypical - USS at time, DMSA 4-6m
- Recurrent- USS within 6w, DMSA 4-6m
