a teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria rodney d...
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![Page 1: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/1.jpg)
A teenage girl with microscopic haematuria and mild proteinuria
Rodney D Gilbert
![Page 2: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/2.jpg)
12 year old girl
• Referred with microscopic haematuria
• No proteinuria
• Neither parent had haematuria
• No family history of CKD
• Normal BP
• Normal creatinine, C3, C4, ASOT and ANA
![Page 3: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/3.jpg)
What would you do?
A. Biopsy
B. Reassure and discharge
C. Annual check-ups
D. Genetic testing
Biopsy
Reassure
and d
ischarg
e
Annual check
-ups
Genetic te
stin
g
13%8%
70%
10%
![Page 4: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/4.jpg)
1 year later
• Mild proteinuria (UPC 33, UAC 14)
• Normal BP, creatinine
• No fever, arthralgia, rash
• Referred back
• What is the likely diagnosis? 1. Thin basement membrane disease
2. IgA nephropathy
3. Alport syndrome
4. SLE
![Page 5: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/5.jpg)
What is the next step?
A. Biopsy
B. Continue annual monitoring
C. Genetic testing
D. Reassure and discharge
Biopsy
Continue a
nnual m
onitorin
g
Genetic te
stin
g
Reassure
and d
ischarg
e
64%
2%7%
27%
![Page 6: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/6.jpg)
What do you do now? Biopsy: Normal light microscopy, Immumo-staining negative
A. Reassure and discharge
B. Continue monitoring
C. Genetic testing
Reassure
and d
ischarg
e
Continue m
onitorin
g
Genetic te
stin
g
3%
73%
25%
![Page 7: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/7.jpg)
EM
• Basement membranes show heterogenous thickness and areas of rarifaction of the lamina densa and increased thickness of the lamina rara.
![Page 8: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/8.jpg)
Genetics
• Mutation of COL4A5: c.2142delC; p.Gly716fs
• Presumed de novo (about 15%)
![Page 9: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/9.jpg)
Female heterozygous X-linked Alport What do yuo do now?
A. Reassure and discharge because she is female
B. Start on an ACE inhibitor
C. Start anti-miRNA21 oligonucleotides
Reassure
and d
ischarg
e ...
Start
on an A
CE inhib
itor
Start
anti-m
iRNA21 o
lig...
8%18%
74%
![Page 10: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/10.jpg)
X-linked Alport syndrome in females
• Often undiagnosed
• “Affected” not “carriers”
• Twice as many affected women as men
• 15 to 30% ESRD by 60 years – Hypertension
– Pregnancy
– Other renal disease
– Nephrotoxic drugs
• Hearing loss is common
![Page 11: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/11.jpg)
Risk factors for ESRD
• Early onset ESRD in male relatives / severe genotype
• Deafness
• Proteinuria
![Page 12: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/12.jpg)
Management
• RAAS blockade from onset of albuminuria • Treat hypertension • Avoid nephrotoxic drugs • Healthy diet and weight • No smoking • Monitor hearing • Psychological support • Pregnancy: RAAS blockade and other
complications • Genetic counselling
![Page 13: A teenage girl with microscopic haematuria and mild ... · haematuria and mild proteinuria Rodney D Gilbert . 12 year old girl •Referred with microscopic haematuria •No proteinuria](https://reader034.vdocuments.us/reader034/viewer/2022043003/5f827dcde2c1c870a25dd903/html5/thumbnails/13.jpg)
Summary
• X-linked Alport syndrome is not benign in females
• It should be actively diagnosed and treated
• Comprehensive approach required