1. HEREDITARY RENAL DISEASE

2. AUTOSOMAL DOMINANT / AD
Chromosome(s)
ADPKD PKD (Polycystic Kidney Disease)PKD2 – 4
Tuberous Sclerosus ,11,12,16
Von Hippel-Lindau Ds
Medullary Cystic Ds

3. Autosomal Resistant / AR
ARPKD
Medullary Cystic Ds
Cystinosis
Primary Hyperoxaluria – Enzyme defect
Sickle Cell Ds Chrom 11

4. Sex Linked Ds – X Chrom
Alport’s syndrome
Fabry’s Ds

5. ADPKD
Most common 1/500 – 1/1000
80%: detectable cysts at age < 30; bilateral
Systemic Ds : Hepatic cysts F>M, ovarium, pancreas
Colonic diverticula, hepatic fibrosis,
Cardiac valve abnl – MVP (palpitation, chest pain )
Intracranial Aneurisms
Hernias – umbilical, inguinal
Renal concentrating defect / acidification defect
Hypertension – RAAS
Episodes of microscopic / gross Hematuria
Cyst infection / hemorrhage
Flank pain, proteinuria
Nephrolithiasis (20%) – Citrate
Adenoma, ESRD

6. ARPKD 1/10.000 – 1/50.000 Biliary disgenesis and Hepatic fibrosis
Early in life – RENAL
Later in life – more severe liver ds
Hematuria, proteinuria
Concentration defect
Hypertension
Portal hypertension

7. MULTICYSTIC KIDNEY Abnormal Metanephric differentiation
Misshapen irregular cysts
Lack of callyces, renal pelvis
Sporadic, congenital > familial
Most common cause of abdominal mass in neonates
50 % Bilateral

8. Medullary Cystic Ds (MCD)
AR: Juvenile Nephronophthysis / JN
age 10,
concentrating defect, polyuria, polydipsia
growth retardation
renal failure by age 13
AD: MCD Nephronophthysis Complex
less common
larger cysts
onset age 20’s
ESRD < age 60

9. MCD cont.
Usually small kidneys, small medulllary cysts
Dx by USG
Histopath: BM~ thickened and wrinkled
? Autoimmune interstitial nephritis
Extrarenal: retinal degeneration
retinitis pigmentosa
AR: liver w/ portal fibrosis, cns, bone

10. Acquired Renal Cysts Simple cyst, most frequent, 50% adults
Acquired Cystic Ds,
ESRD /CRF , 7% - 22% pre HD
90% >10 Yrs HD
Component of epithelial hyperplasia
Asymptomatic, gross hematuria, flank pain, erythrocytosis, cyst infection, cyst rupture w/ retroperitoneal bleeding
Malignant transformation, RCC (5Y survival 35%)

11. Medullary sponge kidneys
Developmental abnl > hereditair
Dilated intramedullary collecting ducts, that impart a sponge like appearance
Usually asymptomatic
Defect urine concentration and dilution
Nephrolithiasis, hematuria, UTI’s
High FeNa ,Hypercalciuria, hyperparathyroidism (2`?), parathyroid adenoma
Renal insufficiency uncommon
Dx: IVP: characteristic linear striation ~ bushlike pattern, bouquet like spherical cysts,

12. Tuberous Sclerosis, AD
Epilepsi, mental retardation, skin lesion, hamartomas in many organs
Any age, neonatal to elderly
Flank pain, back pain, hematuria, hypertension, retroperitoneal bleeding
Renal angiomyolipomas, cysts
Dx: CT: intracranial paraventricular calcifications, intrarenal angiomyolipomas
Renal ds most common cause of death in patients age > 30

13. Von Hippel-Lindau Ds / AD
Childhood to old age
CNS, Retinal hemangioblastomas, renal cysts, RCC, pancreas cysts, epididymal cysts, pheochromocytomas
Usually multiple & bilateral renal cysts
Renal failure is rare

14. Alport’s Syndrome /X 1/5000, M>F
Microhematuria, later also proteinuria, hypertension
Frequent sensorineural hearing loss,
Ocular abnormalities, anterior lenticonus, perimacular pigment changes
Leiomyomatosis, genital, oesophageal, upper GI
Progressive loss of renal function
Path: Irreg thinning, thickening, lamellation of GBM
Alport gene, mutations: type IV Collagen, COL 4α5
Missing in GBM: Goodpasteur’s Ag: COL 4α3 (not on X-chrom)
Post transplant: unusual anti GBM Ds

15. Sickle Cell Nephropathy
Early: glomerular hyperfiltration
Later: renal concentrating defect,
impaired K and H ion excretion
Proteinuria, 25%
Path: FSGS and glomerular hypertraphy
4-7% ESRD, mean age 23Y,
anemia, hypertension, proteinuria, NS, microscopic hematuria
Sickle Cell Trait / SA, microinfarcts in renal medulla, w/ hematuria, isosthenuria

16. Congenital disorders
Obstruction and hydronephrosis,
ureteropelvic junction, posterior urethral valve, prune-belly syndrome, nonobstructive hn
Reflux nephropathy,
obstruction, neurogenic bladder
congenital defect ureterovesical junction
frequent UTI, hypertension, renal scarring, renal insufficiency
Nephrotic Syndrome
congenital infections, syphilis, toxoplasma, CMV
Nail-patelle syndrome, AR Finnish type