Inherited Kidney Disorders Flashcards
is AD or AR polycystic disease more common
AD (the most frequent life-threatening hereditary disease)
what is the AD polycystic kidney disease (PKD) mutation
on chromosome 16
in PKD gene 1
or
on PKD gene 2 on chromo 4
which ADPKD mutation is more
PKD gene 1 develop ESRD at an earlier stage
what is the pathology of ADPKD
massive cyst enlargement (large kidneys)
epithelial lined cysts (arise from renal tubules)
benign adenomas (can have cystic transformation into malignant)
what are the renal clinical features of ADPKD
reduced urine concentration ability
chronic pain (cysts cause renal capsule to stretch)
hypertension, early (31 years)
haematuria (cyst rupture, cystitis, stones)
cyst infection
renal failure
what are the extra renal ADPKD clinical features
hepatic cysts (present 10 years after renal cysts- can cause SOB, pain, ankle swelling) intra cranial aneurysms cardiac disease (mitral/aortic valve prolapse, valvular disease) diverticular disease hernias (abdo/inguinal)
how do you diagnose ADPKD
radiological (USS of multiple bilateral cysts, renal enlargement, CT/MRI when unclear on USS)
genetic (linkage/ mutation analysis)
how do you differentiate AD from AR PKD in children
difficult- congenital hepatic fibrosis suggestive of AR
what are the features of ADPKD in children
renal involvement similar to adults
can begin in utero or first year of life
what is the management of ADPKD
hypertension control fro young age hydratio proteinuria reduction cyst haemorrhage + infection Tx tolvaptan (carbonic anhydrase inhibitor that reduces cyst volume and progression)
what is the Tx for renal failure in ADPKD
dialysis
transplant (before dialysis best prognosis)
what are the features of ARPKD
young children
hepatic lesions
(rare)
bilateral and symmetrical renal involvement
normal urinary tract
histologically- cysts appear from the collecting duct system
how does ARPKD present
varies dependin on renal/ liver lesions kidneys always palpable hypertension recurrent UTIs slow decline in GFR
what is the prognosis of ARPKD
infants who survive neonate period have mortality rate of 9% to 24% in first year
past that 80% survival beyond 15 years
what is alports syndrome
hereditary nephritis
disorder of type 4 collagen matrix - leads to deficient collagenous matrix
what type of inheritance is alports
X linked
what are the manifestations
haematuria (damage to glomeruli)
proteinuria (in later stages, bad prognosis)
sensorineural deafness
oculae defects- anterior lenticonus
leiomyomatosis of oesophagus (swallowing difficulty)/ genitalia
how do you diagnose alports
suspect it in haematuria +/- hearing loss
renal biopsy = variable thickness GBM
what is the management for alports
standard agressive tx of BP and proteinuria
dialysis/ transplantation
what is anderson fabrys disease
Inborn error of Glycosphingolipid metabolism
kidneys, liver, lungs, erythrocytes
uncommon
what inheritance is anderson fabrys disease
X linked lysosomal storage disease
what are the clinical features of fabrys disease
renal failure angiokeratomas (skin) cardiomyopathy, valvular disease stroke, acroparasthesia psychiatric
how do you diagnose fabrys disease
plasma/ leukocytes a-GAL activity
renal biopsy
skin biopsy
(concentric lamellar inclusions within lysosomes)
what is the treatment for anderson fabrys disease
enzyme replacement (fabryzyme) management of complications
what is medullary cystic kidney
rare inherited cystic disease (AD)
abnormal renal tubules leading to fibrosis
normal/ small kidneys
cysts are in the corticomedullary junction/ medulla
how do you diagnose medullary cystic kidney
family history, CT scan
Presents average age 28 yrs
what is the treatment for medullary cystic kidney
transplantation
what is medullary sponge kidney
Sporadic Inheritance Dilatation of collecting ducts Severe cases- medullary area appears like a sponge Cysts have calculi renal failure rare
how do you diagnose medullary sponge kidney
Excretion Urography-to demarcate calculi in cysts
what is the most common inherited renal disorder
ADPKD
what is the first pharmacological option for treating ADPKD
tolvaptan
