RESUMO
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, but poorly studied in Africa. Its frequency in the University Clinic of Nephrology and Hemodialysis of Cotonou during the ten last years was 7 cases per year with a hospital prevalence estimated at 18 per 1000. The mean age of patients was 47.2 years extending from 29 to 70 years. Males were predominant with a sex ratio of 1.13. Family history was found in 47% of patients. The most common manifestations were lumbar pain (62%), high blood pressure (59%) urinary tract infections (53%), hematuria (46%), and abdominal masses (43%). Hepatic cysts were the most extra renal manifestations, found in 34% of cases. Renal failure was observed in 72% of patients of our series, six of them were under dialysis. Direct sequencing of polycystin 1 gene enabled us to identify some new mutations: 4 nonsense mutations (p.Q2824X exon 23, p.Q1651X exon 15, p.W1666X exon 15, p.R966W exon 12), a duplication (c_1761.1745 dup exon 9), a deletion (c.9397 + 1_9397 + 8del intron 26) and a deletion-insertion (c.7290_7291delins CTGCA exon 18).
Assuntos
Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Adulto , Distribuição por Idade , Idoso , Benin/epidemiologia , Códon sem Sentido/genética , Análise Mutacional de DNA/métodos , Feminino , Predisposição Genética para Doença/genética , Humanos , Rim/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Mutagênese Insercional/genética , Nefrologia/estatística & dados numéricos , Rim Policístico Autossômico Dominante/epidemiologia , Reação em Cadeia da Polimerase/métodos , Prevalência , Diálise Renal , Deleção de Sequência/genética , Distribuição por Sexo , Ultrassonografia , UniversidadesRESUMO
Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.
Assuntos
População Negra/genética , Calcinose/genética , Artropatias/genética , Mutação , N-Acetilgalactosaminiltransferases/genética , Adolescente , Adulto , Amelogênese Imperfeita/genética , Amelogênese Imperfeita/patologia , Apatitas/sangue , Benin , Calcinose/patologia , Fator de Crescimento de Fibroblastos 23 , Humanos , Hiperfosfatemia/genética , Hiperfosfatemia/patologia , Artropatias/patologia , Masculino , Linhagem , Irmãos , Polipeptídeo N-AcetilgalactosaminiltransferaseRESUMO
Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.