A family with nephronophthisis - medullary cystic disease complex

Dr. Snivastava suggests the use of the term "nephronophthisis" for these conditions. Does this term mean anything to most people, and if it does, how is it appropriate here? Is Familial Uraemic Medullary Cystic disease really a wasting away of the nephron, i.e., the tubular apparatus from Bowman's capsule to the collecting ducts, as the name nephronophthisis suggests? Surely it is time we stopped using Greek terms which to most are meaningless and generally wrongly applied, as would seem to be the case here.

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Familial Uremic Medullary Cystic Disease or Nephronophthisis?

PEDIATRICS ◽

10.1542/peds.47.2.477a ◽

1971 ◽

Vol 47 (2) ◽

pp. 477-477

Author(s):

R. N. Srivastava

Keyword(s):

Age Of Onset ◽

Renal Medulla ◽

Familial Occurrence ◽

Cystic Disease ◽

Medullary Cystic Disease ◽

Familial Juvenile Nephronophthisis ◽

Cystic Changes ◽

Juvenile Nephronophthisis

Drs. Alexander and Campbell (Pediatrics, 45: 1024) rightly mention the similarity between Medullary Cystic disease and familial juvenile nephronophthisis. It is now clear that the separation of these disorders on the basis of familial occurrence, age of onset, and presence of medullary cysts is not possible. I, however, disagree with these authors' recommendation to refer to these conditions as "Familial Uremic Medullary Cystic disease." The disorder is not always familial and the cystic changes are not confined to renal medulla.

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Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12

The American Journal of Human Genetics ◽

10.1086/302414 ◽

1999 ◽

Vol 64 (6) ◽

pp. 1655-1660 ◽

Cited By ~ 75

Author(s):

Francesco Scolari ◽

Daniela Puzzer ◽

Antonio Amoroso ◽

Gianluca Caridi ◽

Gian Marco Ghiggeri ◽

...

Keyword(s):

Cystic Disease ◽

Medullary Cystic Disease

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Renal Medullary Cystic Disease

Acta Radiologica ◽

10.1177/028418518802900507 ◽

1988 ◽

Vol 29 (5) ◽

pp. 527-529 ◽

Cited By ~ 2

Author(s):

A. Olsen ◽

J. Hansen Højhus ◽

G. Steffensen

Keyword(s):

Renal Failure ◽

Renal Disease ◽

Diagnostic Tools ◽

Adult Onset ◽

Cystic Disease ◽

Terminal Renal Failure ◽

Medullary Cystic Disease ◽

Corticomedullary Junction ◽

Autosomal Inheritance ◽

Renal Medullary Cystic Disease

Medullary cystic disease (MCD) is an uncommon renal disease with adult onset and autosomal inheritance, eventually progressing to terminal renal failure. It may be difficult to identify because of insufficient diagnostic tools. At urography, the same ring- shaped accumulation of contrast medium at the corticomedullary junction was observed in two patients (mother and son) suffering from MCD. To our knowledge this observation has not been reported before.

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