Type 2 pseudohyperaldosteronism

Classification according to ICD-10
I15.1	Hypertension as a result of other kidney diseases
ICD-10 online (WHO version 2019)

The pseudohyperaldosteronism Type 2 is a very rare congenital disease with the main feature of a pseudohyperaldosteronism with pronounced, commencing before the age of 20 arterial hypertension .

Synonyms are: hypertension due to 'gain-of-function' mutations in the mineralocorticoid receptor; English Hypertension due to gain-of-function mutations in the mineralocorticoid receptor; Early-onset hypertension with exacerbation in pregnancy; Gordon's Syndrome, Familial Hyperkalemic Hypertension, PHAII

The first description comes from the year 2000 by the US doctors David S. Geller and colleagues.

distribution

Frequency and mode of inheritance are unknown. So far, more than 180 people have been reported.

root cause

The disease are mutations in NR3C2 - gene on chromosome 4 locus q31.23 basis that for the mineralocorticoid coded.

Clinical manifestations

Clinical criteria are:

pronounced, early onset and therapy-resistant high blood pressure
decreased renin and aldosterone in blood serum
Exacerbation during pregnancy

literature

MC Zennaro, F. Fernandes-Rosa: 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations. In: The Journal of endocrinology. Vol. 234, No. 1, July 2017, pp. T93-T106, doi: 10.1530 / JOE-17-0089 , PMID 28348114 (review).
N. Marissal-Arvy, M. Lombès, J. Petterson, MP Moisan, P. Mormède: Gain of function mutation in the mineralocorticoid receptor of the Brown Norway rat. In: The Journal of biological chemistry. Vol. 279, No. 38, September 2004, pp. 39232-39239, doi: 10.1074 / jbc.M407436200 , PMID 15252022 .

Individual evidence

↑ ^a ^b ^c Pseudohyperaldosteronism type 2. In: Orphanet (database for rare diseases).
↑ DS Geller, A. Farhi, N. Pinkerton, M. Fradley, M. Moritz, A. Spitzer, G. Meinke, FT Tsai, PB Sigler, RP Lifton: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. In: Science. Vol. 289, No. 5476, July 2000, pp. 119-123, PMID 10884226
^ Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Pseudohyperaldosteronism type 2. In: Orphanet (database for rare diseases).

[2] DS Geller, A. Farhi, N. Pinkerton, M. Fradley, M. Moritz, A. Spitzer, G. Meinke, FT Tsai, PB Sigler, RP Lifton: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. In: Science. Vol. 289, No. 5476, July 2000, pp. 119-123, PMID 10884226

[3] Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy. In: Online Mendelian Inheritance in Man . (English)