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Pseudoprimary hyperaldosteronism(LIDLS)

MedGen UID:
67439
Concept ID:
C0221043
Disease or Syndrome
Synonyms: Liddle Syndrome; Liddle Syndrome, SCNN1B-Related; Liddle Syndrome, SCNN1G-Related; Liddle's syndrome; LIDLS; Pseudoaldosteronism
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): SCNN1B (16p12.2); SCNN1G (16p12.2)
OMIM®: 177200
Orphanet: ORPHA526

Definition

Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases. [from GTR]

Additional descriptions

From OMIM
Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.  http://www.omim.org/entry/177200
From GHR
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.  https://ghr.nlm.nih.gov/condition/liddle-syndrome

Clinical features

Decreased circulating aldosterone level
MedGen UID:
43793
Concept ID:
C0020595
Disease or Syndrome
A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin (PRO:000013883) in the blood.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Hypokalemic alkalosis
MedGen UID:
43208
Concept ID:
C0085570
Disease or Syndrome
Decreased circulating aldosterone level
MedGen UID:
43793
Concept ID:
C0020595
Disease or Syndrome
A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin (PRO:000013883) in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudoprimary hyperaldosteronism
Follow this link to review classifications for Pseudoprimary hyperaldosteronism in Orphanet.

Recent clinical studies

Diagnosis

Horký K, Gregorová I, Silinková-Malková E, Vancura J
Rev Czech Med 1976;22(4):181-93. PMID: 996300

Therapy

Horký K, Gregorová I, Silinková-Malková E, Vancura J
Rev Czech Med 1976;22(4):181-93. PMID: 996300

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