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Familial hyperaldosteronism type 1(GRA)

MedGen UID:
224694
Concept ID:
C1260386
Disease or Syndrome
Synonyms: ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; Familial Hyperaldosteronism Type 1; FH I; Glucocorticoid-remediable aldosteronism; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; GRA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Glucocorticoid-suppressible hyperaldosteronism (237743003); GSH - Glucocorticoid-suppressible hyperaldosteronism (237743003)
 
Gene (location): CYP11B1 (8q24.3)
OMIM®: 103900
Orphanet: ORPHA403

Definition

Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. [from OMIM]

Additional description

From GHR
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.  http://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism

Clinical features

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Adrenogenital syndrome
MedGen UID:
86215
Concept ID:
C0302280
Congenital Abnormality
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
Adrenal hyperplasia
MedGen UID:
301220
Concept ID:
C1621895
Disease or Syndrome
Enlargement of the adrenal gland.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin (PRO:000013883) in the blood.
Abnormality of the urinary system
MedGen UID:
867444
Concept ID:
C4021821
Disease or Syndrome
An abnormality of the urinary system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial hyperaldosteronism type 1 in Orphanet.

Recent clinical studies

Etiology

Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE
Hypertension 2011 Jun;57(6):1117-21. Epub 2011 Apr 18 doi: 10.1161/HYPERTENSIONAHA.110.168740. [Epub ahead of print] PMID: 21502562
Strauch B, Zelinka T, Hampf M, Bernhardt R, Widimsky J Jr
J Hum Hypertens 2003 May;17(5):349-52. doi: 10.1038/sj.jhh.1001554. PMID: 12756408

Diagnosis

Strauch B, Zelinka T, Hampf M, Bernhardt R, Widimsky J Jr
J Hum Hypertens 2003 May;17(5):349-52. doi: 10.1038/sj.jhh.1001554. PMID: 12756408

Prognosis

Strauch B, Zelinka T, Hampf M, Bernhardt R, Widimsky J Jr
J Hum Hypertens 2003 May;17(5):349-52. doi: 10.1038/sj.jhh.1001554. PMID: 12756408

Clinical prediction guides

Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE
Hypertension 2011 Jun;57(6):1117-21. Epub 2011 Apr 18 doi: 10.1161/HYPERTENSIONAHA.110.168740. [Epub ahead of print] PMID: 21502562

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