Tubulointerstitial and Cystic Disease

Question 1

What are the 2 Type 4 collagen gene mutation syndromes?

Answer 1

Alport’s
Thin basement membrane

Question 2

Alport syndrome:
Gene mutation?
Inheritance?
What other clinical findings?
Urine findings?

Answer 2

COL4A5 (XL - most common)
Hearing loss + hematuria + proteinuria

Question 3

Lamellation or basket weave on EM?

Answer 3

Alports

Question 4

What can happen to alport transplant patient?

Answer 4

Anti-GBM disease (rare)

Question 5

Thin basement membrane
Gene mutation?
Inheritance?
What other clinical findings?
Urine findings?

Answer 5

Dominant?
Single mutation of COL4A3 or COL4A4 (presents like an Alports carrier)
Hematuria without proteinuria

Question 6

Thin BM pathology findings?

Answer 6

IF shows staining on A3, A4, A5 chails (absent in AS)

Question 7

Genetic disorders of the GBM
(figure)

Answer 7

Question 8

Inherited forms of FSGS/SRNS
(figure)

Answer 8

Question 9

Inheritance pattern and name of syndrome:
NPHS1
NPHS2

Answer 9

AR, Finnish type congenital NS (nephrin)
AR, MCC of childhood SRNS (podocin)

Question 10

Inheritance pattern and gene mutation:
Finnish type congenital NS
MCC of childhood SRNS

Answer 10

AR, NPHS1 (nephrin)
AR, PNHS2 (podocin)

Question 11

Inheritance pattern and name of syndrome:
INF2, ACTN4, TRPC6

Answer 11

AD familial FSGS

Question 12

Inheritance pattern and name of syndrome:
WT1

Answer 12

AD, rare FSGS in young adults
Denys Drash and Frasier syndromes (childhood SRNS)

Question 13

Inheritance pattern and name of syndrome:
APOL1

Answer 13

AR FSGS, solidified GS, collapsing GN (HIVAN, COVAN) with african ancestry

Question 14

COQ and ADCK4 (mitochondiral glomerulopathies): what med do you give them?
Clinical features?

Answer 14

Early CoQ10 supplementation prior to onset of CKD
Sensorinerual hearing loss and neuro defects

Question 15

Genetic causes of FSGS/SRNS
(figure)

Answer 15

Question 16

What are things that mimic SRNS?

Answer 16

Cystinosis
Fabrys
Hyperoxaluria

Question 17

WT1 mutations have an increased risk of what?

Answer 17

Gonadoblastoma or Wilm’s tumor
(screen for this periodically)

Question 18

In what SRNS/FSGS syndrome can recurrence in transplant occur? How do you manage?

Answer 18

NPHS1 (nephrin/Finnish NS) - can trigger an autoAb formation against the new transplant
Treat with PLEX + cyclophosphamide + antiCD-20 abs

Question 19

APOL1 can give you what type of histopath?

Answer 19

Question 20

FSGS/SRNS Summary 1
(figure)

Answer 20

Question 21

FSGS/SRNS Summary 2
(figure)

Answer 21

Question 22

AD TI kidney disease:
Urine findings?
When to biopsy?

Answer 22

Avoid it
Bland urine
Rare (FMHx of CKD though)

Question 23

3 major AD TI mutations and their management?

Answer 23

Question 24

UMOD gene:
what disease?
Clinical findings?
Treatment?

Answer 24

Question 25

REN gene: what disease? Clinical findings? Treatment?

Answer 25

Question 26

MUC1 gene: what disease? Clinical findings? Treatment?

Answer 26

Question 27

Benign tumors: brain, heart, skin, eyes, etc (increased risk of RCC) Ash leaf spots, angiofibromas, shagreen patch Cognitive defects and SZ disorder Name the disorder and inheritance pattern

Answer 27

Tuberous sclerosis AD

Question 28

Angiomyolipomas are seen in what disorder? How you you treat?

Answer 28

Seen in tuberous sclerosis (can bleed and decrease GFR) Baseline MRI then every 1-3y (malignancy screen) RAAS blockade

Question 29

Hemangioblastoma, RCC (clear cell), pheo, pancreas cystadenoma or neuroendocrine tumor: Disorder and interitance

Answer 29

Von hippel lindau AD

Question 30

Renal manifestations of VHL syndrome? How do you manage?

Answer 30

Increased risk of kidney cysts Increased risk of RCC MRI screen for RCC at 15yo Observe small (< 3cm lesions); partial nephrectomy, cyrotherapy, or RF ablation

Question 31

XL mutation of alpha-galactosidase A Name the disease? Kind of disease? Clnical features? Path findings?

Answer 31

zebra bodies/myelin whorls

Question 32

Angiokeratomas, pain in hands and feed, can't sweat, GI ssx, tinnitus, hearing loss What is this? Treatment?

Answer 32

Fabrys

Question 33

Name some manifestations of ADPKD

Answer 33

Question 34

Important prognostic marker of ADPKD

Answer 34

TKV - total kidney volume 5x > normal (300mL) volume highest risk for loss of GFR - young age and higher kidney volume = poor prognosis vs older age with smaller kidney volume

Question 35

Genetics of ADPKD - genes, chromosome, protein

Answer 35

Auto Dom 85% PKD1, chrom 16 -polycystin 1 15% PKD2, chrom 4 -polycystin 2 -2 is milder, later onset HTN, smaller volumes, fewer cysts, later onset ESRD

Question 36

Differential of pain in ADPKD - acute -chronic -MSK

Answer 36

Acute: infection, rupture, w/w/o hemorrhage, torsion, stone, obstruction Chronic: cyst growth, stretching of capsule, enlargement of kidney compressing other organs/intra-abdominal structures MSK: exaggerated lumbar lordosis, inc abdominal girth from enlarged cysts

Question 37

This class of Abx is superior in PKD UTI, why?

Answer 37

lipophilic due to lack of communication with actual urinary tract, have to treat like abscess - cipro, norflox, trimethoprim, chloramphenicol

Question 38

Diagnosis for ADPKD 1 -age, # cysts

Answer 38

Question 39

Diagnosis in unknown genotype

Question 40

Answer 40

Class 1B: conservative management - Inc hydration, goal Ur Osmo <280 - 2-3g Na restriction - normal BMP - LDL <100, HDL >50 - BP <110/75 if GFR <60 in up to 50yos, then <130/85)

Question 41

Elimination/suppression of this hormone helps reduce kidney volume/cyst size?

Answer 41

ADH/vaspressin

Question 42

Answer 42

HALT PKD study - goal BP <110/75 for 18-50 yo with GFR >60 Preferred order of treatment RAAS-i bblocker dihydropyriding CCB diuretic

Question 43

Question 44

Indications for tolvaptan

Question 45

Extrarenal manifestations: - panc/liver cysts - cardiovalvular abnormalities- MVP/TVP, AVP/AR - seminal vesical cysts (infertility?) - intracranial aneurysms (RF: smoking, uncontrolled HTN, EtOH use, screen high risk occupations - pilot/bus drivers)

Question 46

Common issues in PDK patients on PD? and HD?

Answer 46

PD: hernia, large kidney/liver, diverticulitis HD: anticoagulation and cyst bleeds

Question 47

Angiomyolipoma and kidney cysts: disease?

Answer 47

Tuberous Sclerosis, TSC1/TSC2 - contiguous gene deletion of TSC2/PKD1 on chrom 16 - severe PKD with ESRD by 30 years old

Question 48

bilateral renal cysts + RCC + hemangioblastoma (retina/spine/brain) and/or pheochromocytoma: disease?

Answer 48

Von Hippel-Lindau

Question 49

Question 50