CILIOPATHIES (KIDNEY)

CILIOPATHIES

 OLD NAME: CHRONIC TUBULOINTERSTITIAL DISORDERS
cilia in kidney located in:

  1. Proximal convoluted tubule (PCT)
  2. Distal convoluted tubule (DCT)
  3. Collecting duct
But not in the loop of henle because its primary function is reabsorption of water.

- Motile cilia → Lungs, Embryonic development (affected in kartagener syndrome)
- Non motile cilia → collecting ducts of kidney , Retinal pigmentary epithelium(RPE)

ciliopathy

  1. autosomal dominant polycystic kidney disease(ADPKD)
  2. autosomal recessive polycystic kidney disease(ARPKD)
  3. Medullary sponge kidney
  4. ADTKD (Tubulointerstital kidney disease) aka medullary cystic kidney disease (MCKD)
  5. Nephronophthisis


Medullary sponge kidney disease

  • Sporadic
  • Developmental malformation of cilia
  • cystic dilatation of collecting duct
  • incidental diagnosis - 50-60 years



clinical presentation

  • Renal stones - calcium oxalate (recurrent stones)
  • Renal UTI/Pyelonephritis/ tenderness at costovertebral junction
  • Hematuria - because stone in jaggered
  • Polyuria - because tubules and collecting duct are defective
  • peritubular cells - since peritubular cells affected (erythropoietin decreased)- anemia
  • RTA(renal tubular acidosis) type 1 - DCT affected

INVESTIGATIONS:
  • IVP - Paint brush appearance aka bouquet flowers aka papillary blush
IVP has been discontinued due to risk of anaphylaxis
  • On CT SCAN - papillary calcifications



ARPKD (Autosomal Recessive polycystc kidney disease)
  • PKHD 1 gene affected - chromosome 6
  • Protein affected - fibrocystin, Polyductin
- Distal and collecting duct cyst

CLINICAL FEATURES:
  • Can be diagnosed as early at 24week of gestation
Antenatal USG - Echogenic kidney / large kidney
  • Oligohydramnios beacuse kidney malfunctioning
  • pulmonary hypoplasia
  • at 1 year renomegaly / HTN → ESRD
EXTRA RENAL MANIFESTATION OF ARPKD
  • Congenital hepatic periportal fibrosis
portal hypertension
esophageal varices
hematemesis
  • Biliary dysgenesis
  • caroli cyst

WORKUP:
  • USG/CT - Echogenic kidney with loss of cortico medullary differentiation

TREATMENT:
  • ACE inhibitors - hypertension
  • for complications - k+↑  - patiromer
  • ESRD(end stage renal disease) - allogenic kidney transplantation


EXTRA RENAL MANIFESTATION OF ADPKD:
  • Hepatic cyst
  • pancreatic/splenic cyst
  • mitral valve prolapse
  • berry aneurysm
  • colonic diverticulosis



ADTKD (autosomal dominant tubulointerstitial kidney disease)

 aka Medullay cystic kidney disease
Gene affected:

 - MCKD1 GENES - Protein affected MUCIN 1
- MCKD2 GENES - Protein affected UMOD (Uromodulin) aka Tamm horsfall proteins
↓
these cells are synthesis by ascending limb of loop of Henle
↓
then excreted in the form of cast(hyaline cast)


- in these condition Tamm horsfall protiens are not excreted
↓
accumulated in tubulo interstitial cells
↓
therefore, these cells are not able to function properly


CLINICAL FEATURE:
  • Salting wasting
  • polyuria
  • anemia
  • failure to thrive
  • stunting
  • hematuria
  • increase uric acid


NEPHRONOPHTHISIS

GENE AFFECTED: NPHP 1 gene - chomosome 2
NPHP 2 gene - chomosome 9


CLINICAL FEATURES;
  • Salt wasting
  • polyuria
  • anemia
  • failure to thrive
  • stunting
  • associated  with joubert syndrome
clinical features: agenesis of vermis of cerebellum
radiological finding: molar tooth appearance



cerebellar vermis hypoplasia - bat wing on CT head

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