Familial Glomerular Syndromes

Question 1

Glomeruloneprhitis vs. glomerulopathy

Answer 1

Nepothiris - nephritic urine sed, mild edema, azotemia, HTN, anemia

Opathy - heamturia and proteinuria, abnoraml kidney function, HTN

Question 2

Nephrtoic characteristics

Answer 2

High grade albumin
Edema
Lipidemia
Lipiuria
Low blood albumin

Question 3

Alport syndrome cause

Answer 3

Mutations in COL4A3, A4, and A5 genes which encode chains of collagen type 4 of GBM

Most are X linked

Question 4

Alport clinical

Answer 4

Kindey - hematuria, proteinura

Chochlea- loss of hearing in 85% before 15)

Ocular - later…anterior lenticonus and alterations in retinal pigmentation

Question 5

Alport syndrome eval

Answer 5

FH of kidney failure in males, hematuria in females

Renal biopsy

Hearing test

Genetic test

Question 6

Alport syndrome tx

Answer 6

ACE inhibition to control proteinuria and BP

Cyclosporine

Question 7

Alport ysndrome points

Answer 7

Mostly males
Mother asx with microhematuria
Grandfather with AKD
Boys have micro hematuria after birht

Question 8

BFH

Answer 8

Benign familai hematuira

Confused with TBMD and alport syndrome

Persistent or IM micro heamturia

Can be auto rec form of ALports dz

Auto dom inheritance

Requirees first degree relative to also have hematuria

Question 9

TBMD

Answer 9

THin basement membrane dz

Thinning of the GBM

Good prognosis and no FH of restricted kidney function - BFH

Uncertain prognsosi and FH of restricted kidney function - TMBD

Question 10

TBMD presentatio

Answer 10

Persistent micro hematuria…rarely with gross…can cause HTN and chronic kidney dz

Family tree fits auto dom inheritance

Question 11

TBMD eval

Answer 11

FH important

Urinalysis in pt and family

Renal biopsy

Question 12

Tx of TMBD

Answer 12

No therapy in children

Antiproteinuric therapy if proteinuria?

Question 13

How to diff alport, BFH, TBMD

Answer 13

Alport - X-linked, FH of advanced dz in males

BFH - blood in urine, NO CKD in family

TBMD - blood in urine rarely CKD in family

Question 14

IgA nephropathy

Answer 14

Normal kidney function and blood pressure

Gross hematuria in setting of URI

POlymerized IgA

Often more than one affected memer in extended fmaily

Question 15

CNF

Answer 15

Onset of nephrotic syndrome in first 3 mos of life

Finnish type…mut to nephrin on chromosome 19

Auto rec inheritance

Question 16

CNF clinical

Answer 16

Portienuria within first two months of life

Premaure and large placenta

Steroids DONT work

Albumin infusions and managmeent of hypothyroid

OFten require removal of kidney and ALWAYS need dilaysis and transplant

Question 17

CNF risk

Answer 17

For future sibling 25%

Siblings should be checked

Question 18

FSGS

Answer 18

Steroid resistance known as SRNS

Dom or rec

Clinical pres with nephrotic syndrome

Podocin (NPHS 2)

Question 19

FSGS mutation

Answer 19

NPHS 2 (podocin) do develop kidney failure

Common presentation is teen with neprhotic syndrome who does NOT repsond ot tx with steroids