pseudohypoaldosteronism

pseudohypoaldosteronism

 [soo″do-hi″po-al-dos´ter-ōn-izm]
a hereditary disorder of infancy, characterized by severe salt loss by the kidneys despite elevated secretion and urinary excretion of aldosterone; it is thought to be due to unresponsiveness of the distal renal tubule to aldosterone.

pseudohypoaldosteronism

A heterogeneous group of salt wasting syndromes due to distal renal tubular insensitivity to mineralocorticoids–eg, aldosterone or due to a defect in the mineralocortioid receptor in the colonic mucosa, salivary gland, sweat glands, resulting in salt loss but normal adrenocortical and renal function, and a hyperactive renin-angiotensin system. Cf Hypoaldosteronism Types Type I Albright's hereditary osteodystrophy More common, and is almost invariably X-linked MIM 300100; AD MIM 103580 cases–designated type IA have been reported; there is inadequate cAMP response to PTH; Type II Due to inadequate end-organ response to ↑cAMP levels; affected children are short and stocky with a round facies, brachydactyly, tetany, foci of bony demineralization, osteitis fibrosa.
References in periodicals archive ?
Hook efect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. Horm Res Paediatr 2010; 74: 72-5.
Patients who have secondary pseudohypoaldosteronism (PHA) in addition to hyponatraemia, hyperpotassaemia and high serum aldosterone levels for the age were included in this retrospective study.Among eight patients, seven patients were diagnosed with PHA secondary to obstructive uropathy (OUP), whereas one patient had PHA secondary to ileostomy.
Hyponatremia, hyperpotassemia, hypovolemia, and metabolic acidosis occur with a clinical presentation similar to that of pseudohypoaldosteronism (PHA), where there is a peripheral resistance to aldosterone activity or aldosterone deficiency (1).
To the Editor: Pseudohypoaldosteronism Type II (PHAII), also known as Gordon syndrome, is a rare autosomal disease, caused by mutations in WNK1, WNK4, CUL3 , or KLHL3 genes.
Moreover, some reports of transient neonatal hyperkalemia and metabolic acidosis in patients with antenatal Bartter syndrome type 2 are described, suggesting an erroneous diagnosis of pseudohypoaldosteronism type 1 [6].
Pathogenesis and causes of hyperkalemia Pathogenesis of Causes of hyperkalemia hyperkalemia False Hyperkalemia Hemolysis Tight turnstile Thrombocytosis Leukocytosis Impaired elimination of ARF, CRF potassium Pseudohypoaldosteronism, hypoaldosteronism, and congenital adrenal hyperplasia Medications (ACEI, ARB, NSAI) Mannitol Drugs interfering with renal potassium excretion (amiloride, spironolactone, and triamteren) Increased shift of Trauma potassium from intra Burn injury to extracellular space Rhabdomyolysis, tumorlyis, hemolysis, and after massive transfusion Acidosis Hyperkalemic periodic paralysis Hyperglisemia Succinylcholine Excessive intake ARF: Acute renal failure, CRF: Chronic renal failure, ACEI: Anjiotensin-converting-enzyme inhibitor, ARB: Anjiotensin
Through stabilizing WNK isoforms, the mutation of CUL3 has been linked to Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension [4].
The combination of positive GBS in the urine and abnormal renal ultrasound supported a renal cause of the patient's hypoaldosteronism or pseudohypoaldosteronism as the diagnosis.
Furthermore, patients with the hereditary disease Pseudohypoaldosteronism Type 1 have a reduced ENaC activity in the airways and thus an increased ASL volume [99].
Pseudohyperaldosteronism and Pseudohypoaldosteronism and the Paediatric Brain.
A small sampling of topics: thyroid hormone transporters and resistance, clinical and molecular aspects of androgen insensitivity, pseudohypoaldosteronism, current issues on molecular diagnosis of GH signaling defects, and human congenital perilipin deficiency and insulin resistance.
Ved was diagnosed with a rare condition called pseudohypoaldosteronism when he was nine months old and had to take regular supplements.