Michel Daudon - Academia.edu (original) (raw)
Papers by Michel Daudon
Arthritis & Rheumatism, 2011
Nephron Physiology, 2004
Morphoconstitutional analysis of urinary calculi, i.e. morphologic examination combined with Four... more Morphoconstitutional analysis of urinary calculi, i.e. morphologic examination combined with Fourier transform infrared spectroscopy (FTIR), is of decisive interest for the diagnosis of rare but severe inherited or acquired stone diseases such as cystine, 2,8-dihydroxyadenine, xanthine, struvite, ammonium urate or drug-containing calculi as well as primary hyperoxalurias. In the absence of early diagnosis and proper management, these diseases may lead
European Urology Supplements, 2011
Néphrologie & Thérapeutique, 2011
American journal of kidney diseases : the official journal of the National Kidney Foundation, 2015
We report a case of multiorgan failure resulting from treatment with the antiviral foscarnet in a... more We report a case of multiorgan failure resulting from treatment with the antiviral foscarnet in a kidney transplant recipient. Precipitation of foscarnet crystals was confirmed histologically from a biopsy of the transplant using optical and infrared microscopy. In addition to kidney damage resulting from foscarnet crystal precipitation in the tubular lumen and glomerular capillaries, the patient presented with pancreatitis, pancolitis, and myocarditis with shock. Interruption of the treatment led to rapid improvement in her general condition, but did not prevent permanent loss of the kidney transplant. When faced with unexplained multiorgan failure in a patient treated with foscarnet, one should assume this substance to be toxic. A kidney biopsy can confirm this diagnosis.
PloS one, 2014
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encodin... more Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). Here, we evidenced in a commonly used congenic 129S2/SvPasCrl mouse substrain a dramatically high frequency of kidney stones that were similar to those of patients with cystinuria. Most of 129S2/SvPasCrl exhibited pathognomonic cystine crystals in urine and an aminoaciduria profile similar to that of patients with cystinuria. In addition, we observed a heterogeneous inflammatory infiltrate and cystine tubular casts in the kidney of cystinuric mice. As compared to another classical mouse strain, C57BL/6J mice, 129S2/SvPasCrl mice had an increased mortality associated with bilateral obstructive hydronephrosis. In 129S2/SvPasCrl mice, the heavy subunit rBAT of the tetrameric transporter of dibasic amino acids was absent in proximal tubules and we identified a single pathogenic mutation in a highly conserv...
Pediatric nephrology (Berlin, Germany), 2012
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder charac... more Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease. The aim of our study was to assess the clinical presentation, diagnosis, and outcome of APRT deficiency in a large pediatric cohort. All pediatric cases of APRT deficiency confirmed at the same French reference laboratories between 1978 and 2010 were retrospectively reviewed. Twenty-one patients from 18 families were identified. The median age at diagnosis was 3 years. Diagnosis was made after one or more episodes of nephrolithiasis (17 patients), after urinary tract infection (1 patient), and by family screening (3 patients). The diagnosis was based on stone analysis and microscopic examination of urine and/or enzymatic determination of APRT on red blood cells. All children had null APRT enzyme activity in erythrocytes. APRT gene sequencing was performed on 18 patients, reve...
![Research paper thumbnail of [Characteristics of encrustation of ureteric stents in patients with urinary stones]](https://attachments.academia-assets.com/44985921/thumbnails/1.jpg)
](Progrès en urologie : journal de l'Association française d'urologie et de la Société française d'urologie, 2008
The goal of this prospective study was to characterize ureteral stents encrustation in stone form... more The goal of this prospective study was to characterize ureteral stents encrustation in stone formers. We report the results of a study based on 658 double-J stents (412 men and 246 women) collected from patients with in situ urinary calculi. The mean age was 48.2+/-16.0 years without differences between genders. Ureteral stent encrustation was analysed by infrared spectroscopy. Results are expressed according to the main component. The mean indwelling time was 73.5+/-73.2 days. The main component in stent encrustations was calcium oxalate (43.8%), essentially the monohydrate form (27.1%), followed by proteins (27.4%), calcium phosphates (16.4% with 8.4% brushite), and uric acid (5.2%). Struvite, detected on 49 stents, was the main component in 2.4% of cases. Significant differences according to gender and age were found: calcium oxalate monohydrate, which represented 24.5% in 20 to 29 years old men class increased to 37.0% in 50 to 59 years class and then decreased in older patients...
The aim of this study was to evaluate the efficacy of helical CT using a combination of CT-attenu... more The aim of this study was to evaluate the efficacy of helical CT using a combination of CT-attenuation values and visual assessment of stone density as well as discriminant linear analysis to predict the chemical composition of urinary calculi. One hundred human urinary calculi were obtained from a stone-analysis laboratory and placed in 20 excised pig kidneys. They were scanned at 80, 120 and 140 kV with 3-mm collimation. Average, highest and lowest CT-attenuation values and CT variability were recorded. The internal calculus structure was assessed using a wide window setting, and visual assessment of stone density was recorded. A stepwise discriminant linear analysis was performed. The following three variables were discriminant: highest CT-attenuation value, visual density, and highest CT-attenuation value/area ratio, all at 80 kV. The probability of correctly classifying stone composition with these three variables was 0.64, ranging from 0.54 for mixed calculi to 0.69 for pure calculi. The probabilities of correctly classifying calculus composition were: 0.91 for calcium oxalate monohydrate and brushite, 0.89 for cystine, 0.85 for uric acid, 0.11 for calcium oxalate dihydrate, 0.10 for hydroxyapatite, and 0.07 for struvite calculi. When the first two ranks of highest probability for the accurate classification of each calculus type were taken into account, 81% of the calculi were correctly classified. Assessment at 80 kV of the highest CT-attenuation value, visual density and the highest CT-attenuation value/area ratio accurately predicts the chemical composition of 64-81% of urinary calculi. When the first two ranks of highest probability for the accurate classification of each calculus type were taken into account, all cystine, calcium oxalate monohydrate and brushite calculi were correctly classified.
Clinical journal of the American Society of Nephrology : CJASN, Jan 25, 2015
Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% ... more Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults and children, respectively. This study aimed to determine epidemiologic and clinical characteristics as well as comorbidities among cystinuric patients, focusing on CKD and high BP. This retrospective study was conducted in France, and involved 47 adult and pediatric nephrology and urology centers from April 2010 to January 2012. Data were collected from 442 cystinuric patients. Median age at onset of symptoms was 16.7 (minimum to maximum, 0.3-72.1) years and median diagnosis delay was 1.3 (0-45.7) years. Urinary alkalinization and cystine-binding thiol were prescribed for 88.8% and 52.2% of patients, respectively, and 81.8% had at least one urological procedure. Five patients (1.1%, n=4 men) had to be treated by dialysis at a median age of 35.0 years (11.8-70.7). Among the 314 patients aged ≥16 years, using the last available plasma creatinine, 22.5% had an eG...
Néphrologie & Thérapeutique, 2012
European Urology Supplements
Progrès en Urologie, 2015
Progrès en Urologie, 2012
The Journal of Urology, 2014
Nucleosides, Nucleotides and Nucleic Acids, 2014
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that l... more Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation and formation of urinary crystals and kidney stones. The disease can be present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available, including stone analysis, crystalluria, and APRT activity in red blood cells, make the diagnosis easy to confirm when APRT deficiency is suspected. However, the lack of recognition of this metabolic disorder frequently resulted in a delay in diagnosis and treatment with grave consequences. The early recognition and treatment of APRT deficiency are of crucial importance to prevent irreversible loss of renal function. This review summarizes the genetic and metabolic mechanisms underlying DHA stones formation and chronic kidney disease, along with the issues of diagnosis and management of APRT deficiency. Moreover, we report the mutations in the APRT gene responsible for APRT deficiency in 51 French patients (43 families) including 22 pediatric cases (18 families) among the 64 patients identified in the biochemistry laboratories of Necker Hospital, Paris (1978-2013).
Arthritis & Rheumatism, 2011
Nephron Physiology, 2004
Morphoconstitutional analysis of urinary calculi, i.e. morphologic examination combined with Four... more Morphoconstitutional analysis of urinary calculi, i.e. morphologic examination combined with Fourier transform infrared spectroscopy (FTIR), is of decisive interest for the diagnosis of rare but severe inherited or acquired stone diseases such as cystine, 2,8-dihydroxyadenine, xanthine, struvite, ammonium urate or drug-containing calculi as well as primary hyperoxalurias. In the absence of early diagnosis and proper management, these diseases may lead
European Urology Supplements, 2011
Néphrologie & Thérapeutique, 2011
American journal of kidney diseases : the official journal of the National Kidney Foundation, 2015
We report a case of multiorgan failure resulting from treatment with the antiviral foscarnet in a... more We report a case of multiorgan failure resulting from treatment with the antiviral foscarnet in a kidney transplant recipient. Precipitation of foscarnet crystals was confirmed histologically from a biopsy of the transplant using optical and infrared microscopy. In addition to kidney damage resulting from foscarnet crystal precipitation in the tubular lumen and glomerular capillaries, the patient presented with pancreatitis, pancolitis, and myocarditis with shock. Interruption of the treatment led to rapid improvement in her general condition, but did not prevent permanent loss of the kidney transplant. When faced with unexplained multiorgan failure in a patient treated with foscarnet, one should assume this substance to be toxic. A kidney biopsy can confirm this diagnosis.
PloS one, 2014
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encodin... more Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). Here, we evidenced in a commonly used congenic 129S2/SvPasCrl mouse substrain a dramatically high frequency of kidney stones that were similar to those of patients with cystinuria. Most of 129S2/SvPasCrl exhibited pathognomonic cystine crystals in urine and an aminoaciduria profile similar to that of patients with cystinuria. In addition, we observed a heterogeneous inflammatory infiltrate and cystine tubular casts in the kidney of cystinuric mice. As compared to another classical mouse strain, C57BL/6J mice, 129S2/SvPasCrl mice had an increased mortality associated with bilateral obstructive hydronephrosis. In 129S2/SvPasCrl mice, the heavy subunit rBAT of the tetrameric transporter of dibasic amino acids was absent in proximal tubules and we identified a single pathogenic mutation in a highly conserv...
Pediatric nephrology (Berlin, Germany), 2012
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder charac... more Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease. The aim of our study was to assess the clinical presentation, diagnosis, and outcome of APRT deficiency in a large pediatric cohort. All pediatric cases of APRT deficiency confirmed at the same French reference laboratories between 1978 and 2010 were retrospectively reviewed. Twenty-one patients from 18 families were identified. The median age at diagnosis was 3 years. Diagnosis was made after one or more episodes of nephrolithiasis (17 patients), after urinary tract infection (1 patient), and by family screening (3 patients). The diagnosis was based on stone analysis and microscopic examination of urine and/or enzymatic determination of APRT on red blood cells. All children had null APRT enzyme activity in erythrocytes. APRT gene sequencing was performed on 18 patients, reve...
Progrès en urologie : journal de l'Association française d'urologie et de la Société française d'urologie, 2008
The goal of this prospective study was to characterize ureteral stents encrustation in stone form... more The goal of this prospective study was to characterize ureteral stents encrustation in stone formers. We report the results of a study based on 658 double-J stents (412 men and 246 women) collected from patients with in situ urinary calculi. The mean age was 48.2+/-16.0 years without differences between genders. Ureteral stent encrustation was analysed by infrared spectroscopy. Results are expressed according to the main component. The mean indwelling time was 73.5+/-73.2 days. The main component in stent encrustations was calcium oxalate (43.8%), essentially the monohydrate form (27.1%), followed by proteins (27.4%), calcium phosphates (16.4% with 8.4% brushite), and uric acid (5.2%). Struvite, detected on 49 stents, was the main component in 2.4% of cases. Significant differences according to gender and age were found: calcium oxalate monohydrate, which represented 24.5% in 20 to 29 years old men class increased to 37.0% in 50 to 59 years class and then decreased in older patients...
The aim of this study was to evaluate the efficacy of helical CT using a combination of CT-attenu... more The aim of this study was to evaluate the efficacy of helical CT using a combination of CT-attenuation values and visual assessment of stone density as well as discriminant linear analysis to predict the chemical composition of urinary calculi. One hundred human urinary calculi were obtained from a stone-analysis laboratory and placed in 20 excised pig kidneys. They were scanned at 80, 120 and 140 kV with 3-mm collimation. Average, highest and lowest CT-attenuation values and CT variability were recorded. The internal calculus structure was assessed using a wide window setting, and visual assessment of stone density was recorded. A stepwise discriminant linear analysis was performed. The following three variables were discriminant: highest CT-attenuation value, visual density, and highest CT-attenuation value/area ratio, all at 80 kV. The probability of correctly classifying stone composition with these three variables was 0.64, ranging from 0.54 for mixed calculi to 0.69 for pure calculi. The probabilities of correctly classifying calculus composition were: 0.91 for calcium oxalate monohydrate and brushite, 0.89 for cystine, 0.85 for uric acid, 0.11 for calcium oxalate dihydrate, 0.10 for hydroxyapatite, and 0.07 for struvite calculi. When the first two ranks of highest probability for the accurate classification of each calculus type were taken into account, 81% of the calculi were correctly classified. Assessment at 80 kV of the highest CT-attenuation value, visual density and the highest CT-attenuation value/area ratio accurately predicts the chemical composition of 64-81% of urinary calculi. When the first two ranks of highest probability for the accurate classification of each calculus type were taken into account, all cystine, calcium oxalate monohydrate and brushite calculi were correctly classified.
Clinical journal of the American Society of Nephrology : CJASN, Jan 25, 2015
Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% ... more Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults and children, respectively. This study aimed to determine epidemiologic and clinical characteristics as well as comorbidities among cystinuric patients, focusing on CKD and high BP. This retrospective study was conducted in France, and involved 47 adult and pediatric nephrology and urology centers from April 2010 to January 2012. Data were collected from 442 cystinuric patients. Median age at onset of symptoms was 16.7 (minimum to maximum, 0.3-72.1) years and median diagnosis delay was 1.3 (0-45.7) years. Urinary alkalinization and cystine-binding thiol were prescribed for 88.8% and 52.2% of patients, respectively, and 81.8% had at least one urological procedure. Five patients (1.1%, n=4 men) had to be treated by dialysis at a median age of 35.0 years (11.8-70.7). Among the 314 patients aged ≥16 years, using the last available plasma creatinine, 22.5% had an eG...
Néphrologie & Thérapeutique, 2012
European Urology Supplements
Progrès en Urologie, 2015
Progrès en Urologie, 2012
The Journal of Urology, 2014
Nucleosides, Nucleotides and Nucleic Acids, 2014
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that l... more Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation and formation of urinary crystals and kidney stones. The disease can be present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available, including stone analysis, crystalluria, and APRT activity in red blood cells, make the diagnosis easy to confirm when APRT deficiency is suspected. However, the lack of recognition of this metabolic disorder frequently resulted in a delay in diagnosis and treatment with grave consequences. The early recognition and treatment of APRT deficiency are of crucial importance to prevent irreversible loss of renal function. This review summarizes the genetic and metabolic mechanisms underlying DHA stones formation and chronic kidney disease, along with the issues of diagnosis and management of APRT deficiency. Moreover, we report the mutations in the APRT gene responsible for APRT deficiency in 51 French patients (43 families) including 22 pediatric cases (18 families) among the 64 patients identified in the biochemistry laboratories of Necker Hospital, Paris (1978-2013).