Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 7

1.

Hyperkalemia

A disorder characterized by laboratory test results that indicate an elevation in the concentration of potassium in the blood; associated with kidney failure or sometimes with the use of diuretic drugs. [from NCI]

MedGen UID:
5691
Concept ID:
C0020461
Finding
2.

Hypertension

A finding of increased blood pressure; not necessarily hypertensive disorder [from SNOMED CT]

MedGen UID:
635666
Concept ID:
C0497247
Finding
3.

Pseudohypoaldosteronism

A state of renal tubular unresponsiveness or resistance to the action of aldosterone. [from HPO]

MedGen UID:
506194
Concept ID:
CN007244
Finding
4.

Pseudohypoaldosteronism, type 2

Pseudohypoaldosteronism type II (PHAII) is characterized by hypertension and hyperkalemia despite normal glomerular filtration rate (GFR). Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described. [from GeneReviews]

MedGen UID:
259599
Concept ID:
C1449844
Disease or Syndrome
5.

Autosomal dominant inheritance

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). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
6.

Pseudohypoaldosteronism type 1 autosomal dominant

Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive PHA (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood. [from OMIM]

MedGen UID:
260623
Concept ID:
C1449842
Disease or Syndrome
7.

Pseudohypoaldosteronism type 1 autosomal recessive

Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). [from OMIM]

MedGen UID:
258573
Concept ID:
C1449843
Disease or Syndrome

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...