Nephronophthisis and Medullary cystic Kidney Disease (Nephronopthisis…
Nephronophthisis and Medullary cystic Kidney Disease
the tubules atrophy and interstitum (tissue around tubules) gets infiltrated with macrophages and becomes fibrotic. This is a form of Tubulointerstitial Nephritis (NOT nephritic syndrome)
can't reabsorb. very dilute urine, polyuria, and polydipsia (drinking)
sodium in urine but no blood or proteins
Later in disease --> Glomeruli may become sclerosed and cysts may pop up at the corticomedullary junction. renal insuffiency --> uraemia and anaemia (erthypoetin)
Subtypes : based on age or which gene is mutated, all autosomal. NPHP1 is most common. Primary Cilia and centriole largely affected.
Other organs :
Liver Fibrosis and situs invertus( major visceral organs reversed from normal postitions)
Medullary Cystic Kideny disease (NOT multicystic dysplastic )
tubulointerestitial fibrosis and inflammation
cysts in corticomedullary junction
polyuria and dipsia and renal failure
no symptoms in other organs
except hyperuricaemia --> Gout
MCKD1 (MUC1 gene) and MCKD2 gene (UMOD gene).
starts in adulthood
Diagnosis, suspected if, polyuria, dypsia, FHx, imaging (cysts). confirmation - biopsy, genetics. Tx with dialysis or transplant.
simple renal cysts
age related in CORTEX
no problems with these
Nephronophthisis is nephro"wasting"
Both are: Genetic, affect nephrons, can lead to cysts and renal failure