La polykystose rénale autosomique dominante (ADPKD) est une maladie génétique survenant chez un n... more La polykystose rénale autosomique dominante (ADPKD) est une maladie génétique survenant chez un nouveau-né sur 1000 faisant de cette affection la forme héréditaire la plus fréquente d'atteinte rénale et représente jusqu'à 10 % des causes totales d'insuffisance rénale chronique terminale (IRCT). La polykystose rénale autosomique récessive (ARPKD) (1/20 000 à 1/40 000 cas) est rare. Elle se caractérise par l'association de kystes rénaux et d'une dysgénésie biliaire. Elle représente une cause importante de morbidité chez le nouveau-né et dans la petite enfance. Les symptômes de l'ARPKD peuvent débuter avant la naissance mais la maladie peut se révéler plus tardivement. Le mode de transmission génétique est différent : l'ADPKD résulte de la mutation de deux gènes, PKD1 (polycystic kidney disease 1) et PKD2 (polycystic kidney disease 2), situés respectivement sur les chromosomes 16 et 4. Dans l'ARPKD, les parents qui n'ont pas la maladie peuvent avoir un enfant atteint à la condition qu'ils transmettent tous les deux le gène muté PKHD1 (polycystic kidney and hepatic disease 1). Le gène est localisé sur le chromosome 6. Le conseil génétique est particulièrement indiqué dans les familles où la maladie rénale a débuté précocement. Il permet ainsi de réaliser l'enquête familiale et de décrire le mode de transmission, de dépister d'éventuels facteurs de mauvais pronostics, d'informer des complications de la polykystose rénale et d'expliquer les possibilités thérapeutiques actuelles.Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) have been done and are reported here. Genetic counselling is particularly advised in early onset disease families. It permits to determine the type of transmission, to describe the course and the major complications of the disease and to explain currents therapeutics possibilities.
Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it t... more Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) ha...
The extent and severity of the disabilities is variable among individuals with Down syndrome, alt... more The extent and severity of the disabilities is variable among individuals with Down syndrome, although generally characterized by a range of physical and intellectual conditions, including language impairment. Whether the language deficit is due to the intellectual disability (ID) or associated to the supernumerary or portion of chromosome 21 is still debated. Karyotyping was performed on blood lymphocyte and skin fibroblasts. Fluorescence in situ hybridization analysis was performed on cultured lymphocytes and buccal smear cells. The trisomy 21 (T21) mosaicism was characterized by 0.7-10% of mosaic cells in the different tissues, in a 14-year-old girl presenting an intellectual development within the normal range and specific language impairment (SLI) as the only prominent feature. This case illustrates the wide range of phenotypical abnormalities possibly associated with T21 mosaicism. We propose that SLI is indeed a phenotypic trait specific to Down syndrome rather than subsequent to the ID most often associated to the syndrome.
Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated ... more Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we describe is only the fifth reported case of non-mosaic Y tetrasomy. This report and follow-up of a patient, between 4 months and 26 years of age, will certainly be helpful in better characterizing this karyotypic defect.
La polykystose rénale autosomique dominante (ADPKD) est une maladie génétique survenant chez un n... more La polykystose rénale autosomique dominante (ADPKD) est une maladie génétique survenant chez un nouveau-né sur 1000 faisant de cette affection la forme héréditaire la plus fréquente d'atteinte rénale et représente jusqu'à 10 % des causes totales d'insuffisance rénale chronique terminale (IRCT). La polykystose rénale autosomique récessive (ARPKD) (1/20 000 à 1/40 000 cas) est rare. Elle se caractérise par l'association de kystes rénaux et d'une dysgénésie biliaire. Elle représente une cause importante de morbidité chez le nouveau-né et dans la petite enfance. Les symptômes de l'ARPKD peuvent débuter avant la naissance mais la maladie peut se révéler plus tardivement. Le mode de transmission génétique est différent : l'ADPKD résulte de la mutation de deux gènes, PKD1 (polycystic kidney disease 1) et PKD2 (polycystic kidney disease 2), situés respectivement sur les chromosomes 16 et 4. Dans l'ARPKD, les parents qui n'ont pas la maladie peuvent avoir un enfant atteint à la condition qu'ils transmettent tous les deux le gène muté PKHD1 (polycystic kidney and hepatic disease 1). Le gène est localisé sur le chromosome 6. Le conseil génétique est particulièrement indiqué dans les familles où la maladie rénale a débuté précocement. Il permet ainsi de réaliser l'enquête familiale et de décrire le mode de transmission, de dépister d'éventuels facteurs de mauvais pronostics, d'informer des complications de la polykystose rénale et d'expliquer les possibilités thérapeutiques actuelles.Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) have been done and are reported here. Genetic counselling is particularly advised in early onset disease families. It permits to determine the type of transmission, to describe the course and the major complications of the disease and to explain currents therapeutics possibilities.
Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it t... more Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) ha...
The extent and severity of the disabilities is variable among individuals with Down syndrome, alt... more The extent and severity of the disabilities is variable among individuals with Down syndrome, although generally characterized by a range of physical and intellectual conditions, including language impairment. Whether the language deficit is due to the intellectual disability (ID) or associated to the supernumerary or portion of chromosome 21 is still debated. Karyotyping was performed on blood lymphocyte and skin fibroblasts. Fluorescence in situ hybridization analysis was performed on cultured lymphocytes and buccal smear cells. The trisomy 21 (T21) mosaicism was characterized by 0.7-10% of mosaic cells in the different tissues, in a 14-year-old girl presenting an intellectual development within the normal range and specific language impairment (SLI) as the only prominent feature. This case illustrates the wide range of phenotypical abnormalities possibly associated with T21 mosaicism. We propose that SLI is indeed a phenotypic trait specific to Down syndrome rather than subsequent to the ID most often associated to the syndrome.
Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated ... more Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we describe is only the fifth reported case of non-mosaic Y tetrasomy. This report and follow-up of a patient, between 4 months and 26 years of age, will certainly be helpful in better characterizing this karyotypic defect.
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Papers by James Lespinasse