Treatment:
I
Autosomal because it isn’t sex
F.
linked so affects males and females
^ - High fluid intake
Autosomal dominant polycystic kidney disease
is caused by mutations in PKD1 (chromosome
16) and PKD2 (chr. 4)
Secondary immunodeficiency causes: aplastic anaemia,
infections (HIV), asplenia, transplant, diseases
Primary causes of immunosuppression:
• X-linked agammaglobulinaemia
• Common variable Immunodeficiency
• Severe combined immunodeficiency
• Selective IgA deficiency
• Purine nucleoside phosphorylase deficiency
Opportunistic infections: an infection by a
microorganism that normally does not cause disease
but pathogenic when the body's immune system is
impaired and unable to fight off infection
- BP control
- Avoid nephrotoxic meds
- Treat infections promptly
- Tolvaptan
Need a critical number of cysts or
positive family history to make
Alport disease is caused by mutations
diagnosis
on alpha 5 chain on X cr. (85%), or
Common variable
immunodeficiency: low levels
of antibodies
Severe combined
immunodeficiency: severe,
affects T and B cells
Immunocompromise: alteration of the
phagocytic, cellular or humoral immunity
that increases the risk of infectious
complications or an opportunistic process
• Involves multiple manual exchanges during the day (normally 3- 5x)
• Variable duration 3-4h per dwell. Overnight 8 hours
Colchicine given during acute gout attack
Autosomal dominant tubulointerstitial kidney disease
Peritoneal dialysis: when the abdominal peritoneum acts a
→ De novo mutations rare
semi-permeable membrane across which fluids and
Usually caused by dissolved substances are exchanged from the blood.
umod mutation
Can lead to hearing loss, starts
with haematuria
↳ Early onset, family affected
to diagnose
↳
Small solutes move quickly across the membrane
1
Angiotensin blockade therapy
alpha 3/4 chains on cr. 2 creating an ‘equilibrium’
- delays disease progression
Clinical Next generation testing
done to help with
diagnosis
Kidney
Complications Automated peritoneal dialysis
- Exit-site infection/leak • Uses a machine to perform multiple overnight exchanges resulting in multiple
- Tunnel infection/leak short dwells.
- Peritonitis (cloudy bags, systemic sepsis)
• 8hours x four exchanges x 2L overnight
- Patent processus vaginalis
• Option of a daytime dwell
- Peritoneal-pleural fistula
• Assisted automated is when someone else sets up the machine
Continuous ambulatory peritoneal dialysis (CAPD)
followed by an overnight dwell.
• Each exchange takes 20-30mins drain in/out -
• Volume dwell usually 1- 2.5L