Nephronophthisis (medullary cystic disease).

Molecular genetics of nephronophthisis and medullary cystic kidney disease.

Nephronophthisis (NPH) and medullary cystic kidney disease (MCKD) constitute a group of renal cystic diseases that share the macroscopic feature of cyst development at the corticomedullary border of the kidneys. The disease variants also have in common a characteristic renal histologic triad of tubular basement membrane disintegration, tubular atrophy with cyst development, and interstitial cel...

An isolated case of nephronophthisis: medullary cystic disease without typical onset.

A 16-year-old girl with renal failure was transferred to our hospital for an extensive renal examination. Computerized tomography and ultrasonography showed multiple small cysts throughout the medulla of both kidneys. Histological findings revealed tubular atrophy and dilatation and marked periglomerular fibrosis, all of which were compatible with nephronophthisis. Her development and growth we...

Medullary cystic disease and juvenile nephronophthisis in separate members of the same family.

Sworn, M. J., and Eisinger, A. J. (1972). Archives of Disease in Childhood, 47,278. Medullary cystic disease and juvenile nephronophthisis in separate members of the same family. The clinical and pathological findings in three sibs dying in renal failure at 9, 15, and 21 years of age respectively are presented. The three sibs showed a similar clinical presentation with an insidious onset of azo...

Juvenile nephropathy in a Boxer dog resembling the human nephronophthisis-medullary cystic kidney disease complex.

A juvenile nephropathy in a 4-year-old male Boxer dog, closely resembling the Nephronophthisis (NPHP)-Medullary Cystic Kidney Disease Complex (MCKD) in humans is described. Gross examination of the kidneys revealed several multiple cysts at the corticomedullary junction and in the medulla. Histological examination was characterized by a widespread tubular atrophy and dilatation, with a marked t...

Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)