HEREDITARY RENAL DISEASE

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HEREDITARY RENAL DISEASE
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AUTOSOMAL DOMINANT / AD

• 
  Chromosome(s)
• ADPKD PKD1 - 16
  (Polycystic Kidney Disease)PKD2 4
• Tuberous Sclerosus 9,11,12,16
• Von Hippel-Lindau Ds 3
• Medullary Cystic Ds -

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Autosomal Resistant / AR

• ARPKD
• Medullary Cystic Ds
• Cystinosis
• Primary Hyperoxaluria Enzyme defect
• Sickle Cell Ds Chrom 11

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Sex Linked Ds X Chrom

• Alports syndrome
• Fabrys Ds

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ADPKD

• Most common 1/500 1/1000
• 80 detectable cysts at age lt 30 bilateral
• Systemic Ds Hepatic cysts FgtM, 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

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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

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MULTICYSTIC KIDNEY

• Abnormal Metanephric differentiation
• Misshapen irregular cysts
• Lack of callyces, renal pelvis
• Sporadic, congenital gt familial
• Most common cause of abdominal mass in neonates
• 50 Bilateral

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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 20s
• ESRD lt age 60

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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

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Acquired Renal Cysts

• Simple cyst, most frequent, 50 adults
• Acquired Cystic Ds,
• ESRD /CRF , 7 - 22 pre HD
• 90 gt10 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)

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Medullary sponge kidneys

• Developmental abnl gt hereditair
• Dilated intramedullary collecting ducts, that
  impart a sponge like appearance
• Usually asymptomatic
• Defect urine concentration and dilution
• Nephrolithiasis, hematuria, UTIs
• High FeNa ,Hypercalciuria, hyperparathyroidism
  (2?), parathyroid adenoma
• Renal insufficiency uncommon
• Dx IVP characteristic linear striation
  bushlike pattern, bouquet like spherical cysts,

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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 gt 30

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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

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Alports Syndrome /X

• 1/5000, MgtF
• 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 4a5
• Missing in GBM Goodpasteurs Ag COL 4a3 (not on
  X-chrom)
• Post transplant unusual anti GBM Ds

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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

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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