| dc.description.abstract | The Dent's Disease (Dd) Is An X-Linked Genetic Kidney
Disease. We Undertook A Retrospective Study Of 4 Dd
Observations Monitored In The Department Of
Nephrology And Transplantation In Toulouse To Relate
The History Of The Disease. Our Purpose Was To Show
The Phenotypic Variability And Therapeutic Difficulties.
Case Report
Patient 1: Mr. G.O. - The Dd Was Discovered Incidentally
Through Proteinuria Of 0.2 G/24 Hours Associated With
Polyuria And Polydipsia Syndrome With Impaired Urine
Concentrating And Diluting Capacity. A Minus 1 Standard
Deviation Was Noted In One Year In Size And Weight,
Which Lasted Up To 8 Years. At 7 Years Of Age,
Hypercalciuria Of 8.4 Mg/Kg/Day With Nephrocalcinosis
Appeared. From 16 Years Onward, Creatinine Degradation
Gradually Reached A Peak Of 444 μmol/L Or A Glomerular
Filtration Rate (Gfr), Under The Mdrd Formula, At 22 Ml /
Minute In June 2014 In The Occurrence Of Epiglottitis. A
Point Mutation Of The Chloride Channel Gene (Cncl5) Was
Noted.
Patient 2: Mr. B.R. The Dd Finding Was Incidental To
Proteinuria Of 2.6 G/24 Hours Associated With Polydipsia-
Polyuria During A School Visit At The Age Of 6 Without
Change In Urinary Diluting Concentration. There Was An
Episode Of Renal Colic When He Was 8 Years Old. When
He Was 10, Hypercalciuria Of 9 Mg/Kg/Day Was Noticed,
Nephrocalcinosis Too. From 14 Years Onward, Creatinine
Gradually Deteriorated, Bringing Mr. B. R To Hemodialysis.
Genetic Analysis Showed Adenine Deletion At Position
1751, Exon 10.
Patient 3: Mr. G.C. The Discovery Of His Kidney Disease
Was Fortuitous As Proteinuria Was Detected In Preventive Medicine When He Was 19 Years Old. There Was No
Clinical Manifestation. His Gfr Altered To Average At 58
Ml / Min Using Mdrd Formula. Mutation Of Gene Cic.5
Was Noted. There Was Nephrocalcinosis Associated With
Renal Cysts.
Patient 4: Mr. T.C. Is The Younger Brother Of Mr. G.C. The
Genetic Investigation Carried Out In The Family Showed
That He Was Bearing The Same Mutation As His Elder
Brother. He Had No Symptoms, At Most Proteinuria Of 0.5
G/G With Urinary Calcium/Creatinine Concentration Of
0.6. At The Age 20, His Kidneys Worked Normally.
Conclusion: The Therapeutic Resources Were Limited.
Several Questions Remained Unanswered, Namely The
Impact Of Ace Inhibitors And Arbs In Slowing The Ckd;
Also 25-35% Of Cases Of Dd Without Genetic Mutation
Was Observed | en_US |
