Tubulointerstitial and Cystic Disease Flashcards
What are the 2 Type 4 collagen gene mutation syndromes?
Alport’s
Thin basement membrane
Alport syndrome:
Gene mutation?
Inheritance?
What other clinical findings?
Urine findings?
COL4A5 (XL - most common)
Hearing loss + hematuria + proteinuria
Lamellation or basket weave on EM?
Alports
What can happen to alport transplant patient?
Anti-GBM disease (rare)
Thin basement membrane
Gene mutation?
Inheritance?
What other clinical findings?
Urine findings?
Dominant?
Single mutation of COL4A3 or COL4A4 (presents like an Alports carrier)
Hematuria without proteinuria
Thin BM pathology findings?
IF shows staining on A3, A4, A5 chails (absent in AS)
Genetic disorders of the GBM
(figure)
Inherited forms of FSGS/SRNS
(figure)
Inheritance pattern and name of syndrome:
NPHS1
NPHS2
AR, Finnish type congenital NS (nephrin)
AR, MCC of childhood SRNS (podocin)
Inheritance pattern and gene mutation:
Finnish type congenital NS
MCC of childhood SRNS
AR, NPHS1 (nephrin)
AR, PNHS2 (podocin)
Inheritance pattern and name of syndrome:
INF2, ACTN4, TRPC6
AD familial FSGS
Inheritance pattern and name of syndrome:
WT1
AD, rare FSGS in young adults
Denys Drash and Frasier syndromes (childhood SRNS)
Inheritance pattern and name of syndrome:
APOL1
AR FSGS, solidified GS, collapsing GN (HIVAN, COVAN) with african ancestry
COQ and ADCK4 (mitochondiral glomerulopathies): what med do you give them?
Clinical features?
Early CoQ10 supplementation prior to onset of CKD
Sensorinerual hearing loss and neuro defects
Genetic causes of FSGS/SRNS
(figure)
What are things that mimic SRNS?
Cystinosis
Fabrys
Hyperoxaluria
WT1 mutations have an increased risk of what?
Gonadoblastoma or Wilm’s tumor
(screen for this periodically)
In what SRNS/FSGS syndrome can recurrence in transplant occur? How do you manage?
NPHS1 (nephrin/Finnish NS) - can trigger an autoAb formation against the new transplant
Treat with PLEX + cyclophosphamide + antiCD-20 abs
APOL1 can give you what type of histopath?
FSGS/SRNS Summary 1
(figure)
FSGS/SRNS Summary 2
(figure)
3 major AD TI mutations and their management?
UMOD gene:
what disease?
Clinical findings?
Treatment?
REN gene:
what disease?
Clinical findings?
Treatment?
MUC1 gene:
what disease?
Clinical findings?
Treatment?
XL mutation of alpha-galactosidase A
Name the disease?
Kind of disease?
Clnical features?
Path findings?
zebra bodies/myelin whorls
Name some manifestations of ADPKD
Important prognostic marker of ADPKD
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
Genetics of ADPKD
- genes, chromosome, protein
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
This class of Abx is superior in PKD UTI, why?
lipophilic due to lack of communication with actual urinary tract, have to treat like abscess
- cipro, norflox, trimethoprim, chloramphenicol
Diagnosis for ADPKD 1
-age, # cysts
Diagnosis in unknown genotype
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)
HALT PKD study - goal BP <110/75 for 18-50 yo with GFR >60
Preferred order of treatment
RAAS-i
bblocker
dihydropyriding CCB
diuretic
Indications for tolvaptan
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)
