RESUMO
Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.
Assuntos
Contratura , Lamina Tipo A , Proteínas de Membrana , Metaloendopeptidases , Anormalidades da Pele , Contratura/congênito , Feminino , Humanos , Lamina Tipo A/genética , Proteínas de Membrana/genética , Metaloendopeptidases/genética , Mutação , Gravidez , Anormalidades da Pele/genéticaAssuntos
Acidose Tubular Renal/diagnóstico , Complicações na Gravidez/diagnóstico , Síndrome de Sjogren/diagnóstico , Acidose Tubular Renal/etiologia , Adulto , Cesárea , Feminino , Idade Gestacional , Frequência Cardíaca Fetal , Humanos , Nefrocalcinose/diagnóstico por imagem , Citrato de Potássio/uso terapêutico , Gravidez , Complicações na Gravidez/terapia , Resultado da Gravidez , Síndrome de Sjogren/complicações , Síndrome de Sjogren/terapia , Bicarbonato de Sódio/uso terapêutico , Ultrassonografia Pré-NatalRESUMO
Homozygous autosomal recessive distal renal tubular acidosis (dRTA) is a rare entity. The intercalated cells in the collecting ducts are defective in apical proton secretion or basolateral bicarbonate reabsorption, due to mutations in genes encoding for proteins in a4 and B1 subunits of the V-ATPase and the anion exchanger Cl-/HCO- (kAE1). This results in decreased ammonium (NH4+) excretion and defective urine acidification. dRTA is characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitranuria, and nephrocalcinosis. Autosomal recessive dRTA is associated with mutation in ATP6V1B1 (2p13) or ATP6V0A4 (7q34) genes. ATP6V1B1 mutation is associated with early - onset sensory neural hearing loss (SNHL), whereas ATP6V0A4 gene mutation may be associated with early-to late-onset SNHL. We report the case of a 30-year-old married woman diagnosed with dRTA at three months of age with mild SNHL, showing homogygous nonsense mutation in exon 3 of the ATP6V0A4 gene that resulted in a stop codon and premature truncation of the protein at codon 6.