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Biomedical subjects

F Cachat

Publications and source records attributed to F Cachat.

At least 19 recordsLinked to original sources
PubMed2006

[Clinical and genetics aspects of Alport syndrome].

Microscopic haematuria of glomerular origin, without known aetiology, should raise the suspicion of Alport Syndrome IASI in children as well as in adults. The genetic mutations causing AS lie in the genes encoding for the alpha3, alpha4 and alpha5 chains of the collagen type IV, the main constituent of glomerular basement membranes (GBM). The various mutations and modes of transmission of the disease account for the heterogeneous clinical presentations. No specific treatment of AS is currently available. However, a better understanding of the GBM's ultrastructure, in particular of type IV collagen, will hopefully enable the identification of novel therapeutic targets.

Decision Trees↗
PubMed2005

[Diagnosis of renal cysts].

Evaluation and management of renal cysts Renal cystic diseases are a heterogeneous group of conditions including heritable, developmental, and acquired disorders. They are united by the presence of microscopic or giant fluid-filled cavities and affect both children and adults. The definitive diagnosis of many of the renal cystic diseases requires clinical, radiological, pathological, and genetic analysis. A precise diagnosis is essential for prognosis, treatment, and future genetic counselling.

Cysts↗
PubMed2005

[Enuresis and voiding disorders in childhood].

Nocturnal enuresis is a common problem seen by the primary care physician. It is mandatory to distinguish between children having monosymptomatic nocturnal enuresis with normal daytime voiding habits and patients having polysymptomatic bed wetting (associated with urgency, frequency, or other signs of unstable bladder). Investigations and treatment of polysymptomatic enuresis are different than treatment of monosymptomatic nocturnal enuresis. A thorough and thoughtful history of voiding pattern is important to separate urge syndrome from organic causes of enuresis. Management of patients who have urge syndrome include general advices like regular voiding routine, physiotherapy, anticholinergic medication and prevention or treatment of urinary tract infections. If the nocturnal enuresis persists after the control of the voiding dysfunctions, treatment of nocturnal enuresis must be undertaken.

Child↗
PubMed2005

[Hematuria and proteinuria in childhood].

Hematuria and proteinuria are often the first signs of potentially severe kidney diseases. Investigations of a child with proteinuria +/- hematuria should start at the primary care physician office, and will permit to rapidly identify the most serious kidney diseases, such as the glomerulonephritis, but also to avoid excessive and costly investigations in patients with a benign condition such as orthostatic proteinuria. Isolated microscopic hematuria is also relatively frequently found during routine pediatric office visit. Secondary to a glomerulonephritis, it is often associated with proteinuria. Urologic causes should be excluded in case of isolated microscopic or macroscopic hematuria.

Child↗
PubMed2005

[Antenatally detected hydronephrosis: practical approach for the pediatrician].

Approximately 1% of the fetuses present some dilatation of their urinary tract in utero. More than 50% of these antenatally detected hydronephrosis will disappear spontaneously after birth. The other 50% comprises ureteropelvic junction obstruction, vesico-ureteral reflux and primary megaureters. Postnatal radiological evaluation (renal ultrasonography and VCUG) is performed in every infant with a significantly dilated renal pelvis (> 8 mm between 20 and 30 weeks or > 10 mm after 30 weeks in utero). Renal nuclear scan should be done in every child with significant/worsening post-natal hydronephrosis. Antibioprophylaxis will be started from birth to prevent urinary tract infection. Medical or surgical approach will be chosen in the light of the uroradiological exam results and the clinical progress.

Female↗
PubMed2000

[Proteinuria in children: practical approach].

Significant proteinuria is not an unfinding in children. Its causes are variable. When detected by dipstick examination of urine, the proteinuria must be assessed quantitatively by measuring the urinary protein/creatinine ratio in a spot sample. Orthostatic proteinuria is the most common cause of intermittent proteinuria. Persistent glomerular or tubular proteinuria are the consequences of various glomerulopathies or tubulopathies, the prognosis of which is variable. Whether glomerular or tubular, persistent proteinuria must be fully investigated, including by renal biopsy.

Adolescent↗
PubMed1999

[Pediatric renal transplantation: Experience in Lausanne 1971 to 1998].

AIMS OF THE STUDY: Analysis of indications and results of paediatric renal transplantation in a single centre, before and after the introduction of cyclosporine A (CSA). METHODS: Historical retrospective study. RESULTS: 19 transplantations were performed in 14 patients (5 second grafts) between 1971 and 1987 (group I). 13 patients were transplanted between 1988 and 1998 (no second transplant) (group II). In group II, all the patients had immunosuppression with CSA, but none in group I. Group II, with CSA, showed better renal survival than patients without CSA. In group I, obstructive uropathies (posterior urethral valves, pyelo-ureteral junction stenosis, vesico-ureteral reflux) represent a common cause (35%) of terminal chronic renal failure (TCRF), whereas in group II they represent only 15% of the causes and chronic glomerulonephritis is the most common cause (69%) of TCRF. Acute and chronic graft rejections were the cause of 9 and 1 graft losses in group I and II respectively. Living related donors account for 14% of all renal transplantations in group I and 46% in group II. CONCLUSIONS: The incidence of paediatric patients referred to Lausanne for TCRF is stable. We have observed a constant and steady decrease in obstructive uropathies leading to TCRF and renal transplantations, whereas glomerulonephritis are increasingly frequent. Graft survival has much improved since the introduction of cyclosporine A, without an increase in morbidity. In carefully selected cases, intrafamilial renal transplantation provides good results and helps to shorten the time spent on dialysis.

Adolescent↗
PubMed1999

[Three different types of atrial septal defects in the same family].

Most of the time atrial septal defects (ASD) are sporadic. Familial forms are characterised by the same type of the ASD, and are frequently associated by other cardiac, osteoarticular (Holt-Oram syndrome) or atrioventricular conductions abnormalities (ostium secundum ASD with prolonged PR, sinus venosus ASD with sinusal bradyarrhythmia). This report describes a family in which the father and his two children present an ASD, each one of a different type (ostium primum ASD, ostium secundum ASD, sinus venosus ASD), without any other associated malformations. To the best of our knowledge, this is the first report of a family in which three different ASD types are present.

Adult↗
PubMed1998

[HIV-associated nephropathy in children].

HIV-associated nephropathy is rare in children. Proteinuria can be its first sign. In the black child, it often presents as focal and segmental glomerulosclerosis. White children are mostly affected with mesangial hyperplasia, rarely with IgA nephropathy. Its etiology is probably multifactorial: presence of the virus itself in the glomeruli, hemodynamic alterations and drug toxicity. There is no specific treatment at the moment.

AIDS-Associated Nephropathy↗
PubMed1996

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

Hereditary non-polyposis colorectal cancer (HNPCC) is characterised by a genetic predisposition to develop colorectal cancer at an early age and, to a lesser degree, cancer of the endometrium, ovaries, urinary tract, and organs of the gastrointestinal tract other than the colon. In the majority of families the disease is linked to mutations in one of the two mismatch repair genes, hMSH2 or hMLH1. We have found a novel hMLH1 nonsense mutation in a Swiss family with Lynch syndrome, which has been transmitted through at least nine generations. A different tumour spectrum of neoplasms of the skin, soft palate, breast, duodenum, and pancreas was observed in three branches of this family, where there was a virtual absence of colonic tumours. The hMLH1 mutation could not be detected in members of these branches suggesting that at least a second genetic defect predisposing to cancer is segregating in part of the kindred.

Adaptor Proteins, Signal Transducing↗