Document Detail

Juvenile nephronophthisis and renal medullary cystic disease.
MedLine Citation:
PMID:  1264565     Owner:  NLM     Status:  MEDLINE    
In the past 30 years 238 cases have been published which describe the nephronophthisiscystic renal medulla complex. Of these, 110 are sufficiently adequate to permit detailed analyses. Both isolated and genetically transmitted cases are reported. The latter include the dominant and recessive modalities, both autosomal, and the former perhaps also X-linked. Renal disease also has been inherited as a recessive trait in association with retinal degeneration. Medullary cysts have been found in 73% of cases in which kidney tissue has been examined directly. Their presence seems to bear no relationship to the ability of involved kidneys to conserve sodium. Salt wasting is described in the presence and absence of medullary cysts. Techniques short of anatomic examination of the kidneys have rarely allowed cysts to be detected and diagnosis continues to rest on a high index of suspicion, aroused in turn by a positive family history for the disease. Arterial hypertension occurs in roughly one third of cases. Aminoaciduria is not a part of the syndrome. A defect in maximum urinary concentrating ability may be the best single early sign of involvement but data are scarce.
K D Gardner
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Perspectives in nephrology and hypertension     Volume:  4     ISSN:  0092-2900     ISO Abbreviation:  Perspect Nephrol Hypertens     Publication Date:  1976  
Date Detail:
Created Date:  1976-07-06     Completed Date:  1976-07-06     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0402144     Medline TA:  Perspect Nephrol Hypertens     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  173-85     Citation Subset:  IM    
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MeSH Terms
Anemia / blood
Blood Pressure
Blood Urea Nitrogen
Creatinine / blood
Genetic Variation
Hyponatremia / pathology
Kidney / pathology*
Kidney Concentrating Ability
Kidney Medulla / pathology*
Nephrons / pathology
Parathyroid Glands / pathology
Polycystic Kidney Diseases / blood,  genetics,  pathology*
Retinal Diseases / genetics
Uremia / blood
Urine / analysis
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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