Dent disease: about 4 adult observations monitored in the department ofnephrology and organ transplantation of toulouse, france

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