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J Cledes

Publications and source records attributed to J Cledes.

At least 19 recordsLinked to original sources
PubMed2002

[Epidemiologic study of urinary calculi in Western France].

OBJECTIVES: An epidemiologic study of urinary calculi (N = 1843) was conducted in Western France: distribution according to the main chemical compounds, age and sex. Comparison with the results of a study with national recruitment (N = 10,617) and a study with regional recruitment (N = 1774). METHOD: The study involved 1843 stones characterized beforehand by morphological analysis associated with infra-red spectrophotometry (FTIR). If analysis of the composition of the stones was carried out on the totality of calculi, studies related to age and sex included only 1583 cases. Comparison of percentages was made using chi 2 test. RESULTS: The composition in main compounds of calculi was comparable with the results of other studies; minor significant compounds presented great differences, raising the problem of interpretation of the infra-red spectra of the latter. Hence, our work was directed towards the analysis of the major compounds and we showed, like most authors, that monohydrate calcium oxalate is predominant in male (46%) as well as in females (37%). Calculi average sex-ratio was 2.19 but dehydrated calcium oxalate sex-ratio was 4.42, suggesting that this compound is found mainly in men. Conversely, for the majority of phosphate stones, the sex-ratio was lower or equal to one, indicating that they predominate in women. Infectious calculi (particularly struvite calculi) appeared slightly more frequent in our population than in other studies, whereas the number of uric acid calculi was lower. This, however, remains to be confirmed. CONCLUSION: The population studied was not significantly different from the national population regarding lithiasis, except perhaps for uric acid and struvite calculi, despite specific regional differences in diet and the role of nutritional factors in lithogenesis.

Adolescent↗
PubMed2001

Inheritance of a stable mutation in a family with early-onset disease.

Autosomal/dominant polycystic kidney disease (ADPKD) exhibits a high inter- and intrafamilial heterogeneity partly explained by the involvement of at least 3 different genes in the disorder transmission. PKD1, the major locus, is located on chromosome 16p. The occurrence of very early-onset cases of ADPKD (sometimes in utero) in a few PKD1 families or the increased severity of the disease in successive generations raise the question of anticipation. This is a subject of controversial discussion. This report deals with the molecular analysis in families with very early-onset ADPKD. The finding of the same stable mutation with such different phenotypes rules out a dynamic mutation. The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism.

Adult↗
PubMed2000

Novel mutations in the duplicated region of PKD1 gene.

Autosomal dominant polycystic kidney disease (ADPKD) exhibits a genetically heterogeneous transmission involving at least three different genes. PKD1 gene linked mutations are responsible for the disease in about 85% of ADPKD cases. The search for mutations is a very important step in understanding the molecular mechanisms underlying ADPKD. We undertook this study using denaturing gradient gel electrophoresis (DGGE), after a stage of long range PCR, to scan for mutations in the duplicated region of the PKD1 gene in French ADPKD families. This allowed us to identify eight novel mutations and several polymorphisms: among the mutations, three are nonsense mutations, two are deletions in the coding sequence leading to frameshift mutations, one is a splice mutation and two are highly probable missense mutations. In this paper, we also provide a review of the mutations reported so far which are widespread throughout the gene. Although no clear hot spot for mutation is apparent, we will focus on some clustering observed.

Amino Acid Substitution↗
PubMed1999

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations is a very important step in understanding the molecular mechanisms underlying ADPKD. Despite intense screening by many groups, only a small number of mutations have been described so far. We undertook the first study using denaturing gradient gel electrophoresis (DGGE) to scan for mutations in the non-duplicated region of the PKD1 gene in a large cohort of 146 French unrelated ADPKD patients. We successfully identified novel mutations: 3 are frameshift mutations, 2 nonsense mutations, 2 missense mutations, 1 is an insertion in the frame of 9 nucleotides, 3 intronic variations and several polymorphisms. One of these mutations is the fourth de novo mutation described in this gene. We also describe a family with possible clinical anticipation. DGGE is an effective method for detecting nucleotide changes in the PKD1 gene.

Adult↗
PubMed1998

Massive proteinuria as a main manifestation of primary antiphospholipid syndrome.

Renal involvement in antiphospholipid syndrome (APS) is increasingly reported. So far, massive proteinuria as the principal feature of primary APS (PAPS) has not been well documented. We describe 3 patients with PAPS and massive proteinuria. Renal biopsy was performed in all 3, and features consistent with membranous and focal segmental glomerulopathy were disclosed. These histological lesions were not yet reported in PAPS. We conclude that the spectrum of renal lesions in PAPS is diverse and that it should be considered in the differential diagnosis of patients with massive proteinuria.

Adult↗
PubMed1996

Membranous nephropathy in primary antiphospholipid syndrome: description of a case and induction of renal injury in SCID mice.

Primary antiphospholipid syndrome (PAPS) is a recently recognized clinical entity encompassing the combination of thromboembolic phenomena, thrombocytopenia and recurrent abortions in the presence of antiphospholipid antibodies. We present a patient with PAPS accompanied by renal involvement, manifested as membranous nephropathy, as proven by a renal biopsy. To investigate further the possible association between PAPS and the renal lesions we attempted to induce similar renal manifestations by transferring peripheral blood lymphocytes (PBL) from this patient to severe combined immunodeficiency (SCID) mice. The mice transfused with PBL from the affected patient exemplified antiphospholipid antibodies (aPL) following which a renal lesion consistent with the human membranous nephropathy lesion was precipitated. This study substantiates the role of aPL as possible inducers of renal damage.

Adult↗
PubMed1996

[Endovascular treatment of traumatic and iatrogenic intrarenal arterial lesions by microcoil embolization].

Selective embolization is the best treatment for intrarenal arterial lesions due to trauma or percutaneous procedures with non-controlled or recurrent haematuria. Three male patients, aged 20-70 (mean 49 years), were recently treated in our institution by means of arterial embolization with microcoils. Two patients presented a pseudo-aneurysm and an arterio-venous fistula secondary to percutaneous nephrolithotomy and one patient presented an isolated pseudo-aneurysm due to trauma. In the 3 cases, haematuria (associated with retroperitoneal haemhorrage in one case) was not controlled and required repeated units of blood. Embolization allowed definitive treatment of these lesions. One of our patients with a solitary functional kidney presented rapidly increasing renal failure which completely resolved after arterial embolization. We think that microcoils are the embolic agents of choice to perform endovascular treatment in this indication.

Adult↗
PubMed1993

[Results of dietary evaluation during calcium oxalate and calcium phosphate lithiasis].

In order to better understand the role of diet in etiology of urolithiasis, 84 oxalo-phospho-calcic-lithiasic patients (52 men, 32 women) have been studied by a nutritional week-interview and by urinary and blood testing. Diet data were compared to an ideal standard. Total caloric intake was 2428 +/- 651 calories/d; this intake is high in 7% women and 40% men. 79% out of patients are fat. Protidic intake is 87 +/- 21 g/d higher than 1 g/kg/d in 84.5% of patients. Lipids are high in 38.9 +/- 7%, glucid are low in 45.3 +/- 7%. Calcium intake is 934 +/- 406 mg/d, sodium intake is 12.9 + 3 g/d. Water intake is 2305 +/- 759 ml/d. Different groups of patients are studied: a) 21 patients with mean age of 43 +/- 12 years have recurrent lithiasis (R). This group is compared to 48 patients with 37 +/- 44 years who have a single lithiasis. Half of (R) patients have hypercalciuria, hyperphosphaturia and hyperoxaluria. Diet study is no different between these two groups. b) Other groups are studied: 21 have hyperophosphaturia (HPU) without hypophosphoremia and they have hypercalciuria, hyperuraturia and high urinary urea; diet shows higher glucicid and potassium intake than group with normal phosphaturia; 23 have hypercalciuria (HCU) and high uraturia and phosphaturia: diet study shows no difference with a group with normal calciuria. 21 have hyperoxaluria (HOU): diet study of a normal oxaluric group shows higher lipid intake, lower glucidic and calcium intake; 22 have hyperuraturia (HAU) and higher urinary urea, sodium and potassium than normouraturia group: in this group potassium intake is higher.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Immediate and long-term prognosis in acute renal failure in the elderly.

Acute renal failure (ARF) is particularly frequent in the elderly. A few studies have reviewed immediate prognosis of ARF in older patients, but these do not allow any conclusion on long-term renal prognosis. Our retrospective study included 46 patients over 65 years referred to our renal unit between 1983 and 1989. Survivors were followed up 6-71 months after discharge (mean: 39 months). The evolution of renal function was evaluated by measurement of serum creatinine. Data analysis employed chi 2 with Yates correction, Student t, and Mann-Whitney tests to compare survivors and deceased, and to compare patients with normal and abnormal renal function at follow-up. During hospitalisation 11 patients (24%) died. Our univariate analysis reveals that three variables independently influence mortality: consciousness disturbance (P less than 0.001), high urea concentration (P less than 0.01), and hypoalbuminaemia (P less than 0.001). Age does not adversely affect prognosis. At follow-up 15 patients (43%) had a complete functional recovery, eight (23%) had incomplete renal recovery and two (6%) were on chronic haemodialysis. These results are similar to those observed in a younger population. In conclusion we believe that age alone should not be used to predict the immediate survival or the long-term renal outcome in ARF in the elderly.

Acute Kidney Injury↗
PubMed1991

Effects of an EDTA infusion on the urinary elimination of several elements in healthy subjects.

Ethylene diamine tetraacetate calcium disodium salt (EDTA Ca Na2), 1 g dissolved in 250 ml of 5% w/v glucose solution, was infused intravenously over 1 h into 10 healthy subjects (eight males and two females). Urines were collected over 24 h, the day before and on the day of the EDTA Ca Na2 infusion test. The elements Al, B, Ba, Cu, Fe, Mn, Si, Sr, Zn, Na, K, Ca, Mg, S and P were measured by inductively coupled plasma optical emission spectrometry. Pb was measured by inductively coupled plasma mass spectrometry. The EDTA Ca Na2 infusion increased the 24 h elimination of Al from 9.8 micrograms to 58 micrograms, of Fe from 66 to 121 micrograms, of Mn from 2.9 to 16.5 micrograms, of Pb from 9.8 to 56 micrograms and of Zn from 623 to 8847 micrograms. The ratio of the increase of urinary elimination induced by EDTA Ca Na2 was about 2 for Fe, 5 for Al, Pb and Mn, and 15 for Zn.

Adult↗
PubMed1991

Nephrocalcinosis in Sjögren's syndrome: a late sequela of renal tubular acidosis.

Sjögren's syndrome (SS) is an autoimmune exocrinopathy that develops into systemic autoimmune disease in 25% of patients, leading to general complications, one of which is kidney involvement. It presents mainly as interstitial nephritis, disclosed by hyposthenuria, distal renal tubular acidosis (RTA) and diabetes insipidus. We here describe five cases of SS with type-1 RTA (hyperchloraemic metabolic acidosis with an anion gap and alkaline urine pH) who developed nephrolithiasis, nephrocalcinosis and renal insufficiency. Hypercalciuria due to acidosis was the main nephrocalcinosis-prone factor in four patients; four subjects displayed diminished renal concentrating capacity, and two had hypokalaemia.

Acidosis, Renal Tubular↗