Inherited Kidney Disorders Flashcards
name 3 common congenital kidney disorders
horseshoe, renal agenesis, dysplastic kidney
what is the most common congenital renal anomaly
horseshoe kidney
what is horseshoe kidney and where is it usually found
conjoined kidneys at inferior poles, is found in lower abdomen as gets caught in inferior mesenteric artery during ascent
what are symptoms of horseshoe kidney/ how is it diagnosed
asymptomatic but can cause obstruction - incidental finding
what is renal agenesis
kidney does not form, can bu uni or bilateral
what does unilateral agenesis result in
hypertrophy of existing kidney, hyperfiltration which can cause kidney failure in later life
what does bilateral agenesis result in
is incompatible with life
what is dysplastic kidney
malformation of renal parenchyma resulting in cysts and abnormal tissue eg cartilage
if dysplastic kidney is bilateral what should be investigated
polycystic kidneys
what is more common autosomal dominant or recessive polycystic kidney disease
autosomal dominant - ADPKD
what age does ADPKD tend to present at
in adulthood
what 2 genes can be mutated in ADPKD and which is more common
PKD1 (85%) on chromosome 16 // PKD2 (15%) more common on chromosome 4
in ADPKD what gene mutation is likely to cause ESKD first
PKD1 (around 50 yo)
what are the main clinical findings of ADPKD (4)
bilateral renal enlargement with cysts, chronic abdominal pain, hypertension, haematuria
where do the cysts arise from in ADPKD
epithelial from renal tubules
what extra-renal complications are common in ADPKD (5)
1) hepatic cysts (most common) 2) subarachnoid haemorrhage 3) mitral/ aortic valve prolapse 3) diverticular disease 5) abdo/ inguinal hernia
how do hepatic cysts in ADPKD commonly present
10 years after renal cysts develop, SOB, pain, ankle swelling (preserved liver function)
if ADPKD was to present in children what age would be expected and what would be enough for diagnosis
in utero or first year, single cyst on kidney (is rare)
what is the first line investigation for ADPKD
USS
what would ADPKD show on an USS
multiple, bilateral cysts and renal enlargement
what investigation is used if USS is unclear
MRI (gold standard) -( and genetic analysis)
what is the management for ADKPD (4)
1) hypertension management - ACEi 2) cyst reduction - tolvaptan 3) U+E monitoring 4) renal failure - dialysis and transplant
when does ARPKD tend to present
in young children (severe cases do not survive neonatal period)
on what gene is the ARPKD mutation found
PKDH1 on chromosome 6
how does ARPKD normally present (5)
1) hepatic and renal cysts and fibrosis 2) hypertension 3) recurrent UTIs 4) slow decline in GFR
what investigation is done for ARPKD
USS: bilateral cysts and enlarged kidneys - (genetic testing)
what is the main difference between ADPKD and ARPKD
ARPKD presents earlier, is more likely to have liver involvement, is less common and is more severe
what type of inheritance in Allport’s syndrome (hereditary nephritis) and which gene is it on
X linked inheritance - COL4A5 gene
what is Allport’s syndrome a disorder of
type IV collagen matrix - glomerular syndrome
what is the most common symptom of Allport’s
haematuria
what are some other symptoms of Allports
proteinuria, sensorineural deafness, ocular defects, leiomyamatosis of oesophagus/ genitals (rare)
what symptoms of Allports is associated with bad prognosis
proteinuria
how is Allports diagnosis
haematuria + hearling loss –> renal biopsy (variable thickness in GBM)
how do you manage Allport’s
symptomatic: treat BP, proteinuria, hearing aids, dialysis and transplant
what type of inheritance in fabry’s disease
X linked
what type of disease is Fabry’s disease
lysosomal storage disease - glomerular syndrome
what does Fabry’s disease cause a deficiency of
a-galactodisase A
which systems does Fabry’s disease affect (4)
kidney, liver, lungs, erythrocytes (blood)
what are the clinical features of Fabry’s (5)
1) renal failure 2) cutaneous angiokeratomas (dark red spots) in umbilical area 3) cardiac myopathy and valvular disease 4) stroke 5)psychiatric symptoms
how do you diagnose fabry’s
plasma/ leukocytes analysis, renal biopsy, skin biopsy
how do you treat fabry’s
enzyme replacement - fabryzyme
what type of inheritance is medullary cystic kidney
autosomal dominant (rare)
what happens in medullary cystic kidney
morphologically abnormal renal tubules –> fibrosis –> shrunken kidneys.
where do the cysts form in medullary cystic kidney
corticomedullar junction
how do you diagnose medullary cystic kidney (4)
CT, age 28, renal medullary cysts, kidney transplant
what is the inheritence of medullary spongey kidney
sporadic
what is the pathology of medullary spongey kidney
dilation of collecting ducts, cysts have calculi
how do you diagnose medullary spongey kidney
excretion urography
