2019年10月10日 · Hereditary dRTA caused by pathogenic variants in SLC4A1 is inherited in an autosomal dominant or autosomal recessive manner. Autosomal recessive inheritance: At …

2023年6月20日 · This review systematically summarizes the pathogenic genes, pathophysiological mechanisms, differential diagnosis, and treatment of different types of …

Distal RTA (dRTA), also called type 1 RTA, is a rare genetic disorder characterized by the inability of the distal nephron to maximally increase the urinary secretion of protons (H +) in the …

Inherited distal RTA can be essentially of three types: autosomal dominant distal RTA (the commonest form) and autosomal recessive distal RTA with and without sensorineural …

2012年10月1日 · Hemolytic anemia may be seen in some types of hereditary RTA associated with AE1 mutations, whereas deafness is an important feature in some H + -ATPase mutations. …

2019年5月11日 · Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review …

Renal tubular acidosis (RTA) comprises a group of disorders in which excretion of hydrogen ions or reabsorption of filtered HCO₃ is impaired, leading to chronic metabolic …

2020年8月27日 · Some patients with autosomal dominant distal RTA remain asymptomatic until adolescence or adulthood, whereas others, and those with recessive disease, may be …

Unlike adults, in whom RTA is usually secondary to acquired causes, children most often have primary forms of RTA resulting from an inherited genetic defect in the tubular proteins involved …

2019年10月10日 · Autosomal dominant inheritance: Each child of an individual with autosomal dominant dRTA has a 50% chance of inheriting the pathogenic variant. Once the hereditary …