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Radiology
Autosomal Recessive (Infantile) Polycystic Kidney Disease
Built from Obstetric Imaging
What’s inside
9 sections · 65 slides
Overview
- What this deck covers
What the disease is
One gene fault, two organs: kidneys that swell and a liver that scars.
- The problem in plain words
- Unpacking the name
- The old name, and why it changed
- One disease, two organs
- The two genes behind the disease
- Which gene, which catalogue name
- ≥ 30%
How common it is, and what happens
Rare, under-counted, and severe — but not always short-lived.
- How often it happens
- Two reviews, the same hard picture
- Children who survive: what they live with
- Into adult life
- The four problems that dominate later life
Genes, cilia and how the cysts form
A broken antenna on the tubule cell, and a duct that will not stay narrow.
- What a cilium is, and why it matters here
- Fibrocystin, the missing protein
- From gene fault to a kidney full of cysts
- What the same fault does to the liver
- The wider family of cilia diseases
- Cilia diseases that also cyst the kidneys
Confirming the diagnosis
The scan raises it; only the gene test proves it.
- How the diagnosis actually gets made
- Testing the genes
- The test that will not find it
- The type of gene fault predicts severity
What it looks like on ultrasound
Big, bright, featureless kidneys — and an empty uterus around them.
- The classic scan picture
- How big is big
- Massively enlarged echogenic kidneys at 14 weeks
- Why the amniotic fluid disappears
- From blocked kidneys to lungs that cannot grow
- An empty fetal bladder at 24 weeks
- Why absent fluid before 20 weeks is so serious
- Cysts you can actually see are rare
- The scan changes as the pregnancy advances
- The salt and pepper sign
- Severe disease followed from 18 to 26 weeks
- Scattered cystic lucencies in a globular kidney
- The difficult scan
- Mildly enlarged echogenic kidneys with normal fluid at 21 weeks
- Why the third trimester scan helps
- One fetus followed from 22 to 30 weeks
- Visible renal pelves and a contracted stomach at 22 weeks
- Corticomedullary differentiation lost by 26 weeks
- Ground-glass kidneys over 6 cm long at 30 weeks
- The liver is nearly invisible before birth
Look-alikes and the differential
Bright big kidneys are a pattern, not a diagnosis.
- Why the differential is so wide
- ADPKD: the common look-alike
- Enlarged echogenic kidneys in a fetus with trisomy 13
- What a large review of bright kidneys found
- What else can look like this
- Rarer look-alikes
- How to work through the differential
Counselling and care after birth
The lungs decide the first day; the kidneys and liver decide the decades.
- When the fluid is gone before 20 weeks
- The first hours and days after birth
- Imaging through childhood
- What to watch for, lifelong
Summary
What to say, what to check, and what not to promise.
- What the referring clinician needs to know
- The rest of the handover
- “
- Key points
- Three mistakes to avoid
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition