Cammy Renal Flashcards
What is horseshoe kidney
Conjoined kidney usually at the lower pole
What is renal agenesis and what happens when it is unilateral
Absence kidney
If unilateral, leads to hypertrophy of single kidney
Which congenital kidney abnormality leads to oligohydroamnios and lung hypoplasia
Bilateral renal agenesis
Gene and chromosome in ARPKD
PKDH1 on chromosome 6
1st line investigation for suspected PKD
USS
Gene and chromosome in ADPKD
PKD1 on chromosome 16
Risk of the children of patients with ADPKD getting disease
50%
Which PKD is associated with Berry Aneurysms and where are these found
ADPKD
Circle of Willis
Which valve abnormality is associated with ADPKD
Mitral valve prolapse
BP target in PKD
<130/80
Which drug can be used to decrease cyst volume in ADPKD
Tolvaptan
How does Tolvaptan work and which syndrome can it be used to treat
Vasopressin antagonist –> can be used for SIADH
Gene and mode of transmission of Alport’s
COL4A5
X-Linked
Which symptom along with haematuria is characteristic of Alports
Deafness
What is seen on renal biopsy in an Alport’s patient
Variable thickness of GBM
Anderson-Fabry’s disease is a deficiency of what
Alpha-galactosidase
Treatment for Anderson-Fabry’s
Fabryzyme
What is cutaneous angiokeratoma and what disease is it associated with
Clusters of telangiectasia around belly button
Anderson-Fabry’s
Parenchymal fibrosis leading to shrunken kidneys is a description of which disease
Medullary cystic kidney
Treatment for Medullary cystic kidney
Transplant
What do Dymorphic and Isomorphic RBC casts suggest
Dysmorphic = from kidney Isomorphic = from bladder