Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. Two different forms of PHA1 can be distinguished on the clinical and genetic level, showing either a systemic or a renal form of mineralocorticoid r...

Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the di...

Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long sal...

Non-pancreatic gastrointestinal neuroendocrine tumors (NETs) include a wide group of diseases mainly located in the ileum and appendix and usually with no clinical signs of hormone hypersecretion. At least 140 cases have been reported in the ampulla of Vater, whose symptoms usually derive from ampullar obstruction and include abdominal pain, pancreatitis, jaundice, or gastrointestinal bleeding....

ype 1 pseudohypoaldosteronism (PHA-1) was first described n 1958 by Cheek and Perry.1 It is a rare syndrome of aldoserone unresponsiveness, expressed in two forms: renal HA-1 and systemic PHA-1.2,3 Renal PHA-1 results from autoomal dominant mutations in the kidney mineralocorticoid eceptor. As the mineralocorticoid resistance is limited to ne organ, the phenotype is milder and often improves sp...

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial...

UNLABELLED Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into...