Which salt wasting tubulopathy represents the mirror image of Liddle syndrome

Which salt wasting tubulopathy represents the mirror image of Liddle syndrome?

Pseudohypoaldosteronism type 1 (PHA 1) is characterized by salt-wasting resulting from renal unresponsiveness to aldosterone. Affected individuals present with neonatal renal salt wasting associated with hyperkalemic acidosis, despite high aldosterone levels. There are two genetic subtypes, which can be distinguished by severity of symptoms: the milder type 1A is inherited in an autosomal-dominant fashion, and the more severe type 1B is transmitted in an autosomal recessive pattern.

The recessive form, PHA type 1B, is caused by biallelic loss-of-function mutations in any one of the three genes encoding the α-, β-, and γ-subunits of ENaC, leading to decreased channel activity and severe renal salt wasting. This condition is the mirror image of Liddle syndrome. Patients with this form can feature a severe systemic disorder, starting in infancy and persisting into adulthood, and require lifelong follow-up.

PHA type 1 A is caused by loss-of-function mutations in the MR gene and could be considered as mirror image of Geller syndrome (hypertension exacerbated in pregnancy by activating mutation of the MR). Affected individuals improve with aging and usually become asymptomatic without treatment by adulthood. Nevertheless, elevated aldosterone levels can be found. Affected individuals are at higher risk with intercurrent illness associated with volume depletion.

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856