Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes

Imported from OMIM

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.

Imported from Human Phenotype Ontology (HPO)

• Edema
• Sensorineural hearing impairment
• Polyhydramnios
• Hydrops fetalis
• Hyperaldosteronism
• Hypokalemia
• Hyponatremia
• Hypotonia
• Polyuria
• Polydipsia
• Hypochloremia
• Premature birth
• Hyporeflexia
• Hypokalemic hypochloremic metabolic alkalosis
• Decreased glomerular filtration rate
• Renal insufficiency
• Renal salt wasting
• Increased urinary potassium
• Hyperchloriduria
• Motor delay
• Generalized hypotonia
• Impaired renal concentrating ability
• Global glomerulosclerosis
• Fetal polyuria
• Tubulointerstitial fibrosis
• Failure to thrive
• Hypernatriuria
• Intellectual disability
• Reduced renal corticomedullary differentiation