Pseudohypoaldosteronism Clinical Presentation

Updated: Aug 05, 2022
  • Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD  more...
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The clinical expression of renal pseudohypoaldosteronism (PHA) type I (PHA-I) varies widely, even among members of the same family who have the same gene defect. Affected children may have severe symptoms in early infancy (the first 2 weeks of life) or may be essentially asymptomatic.

Salt wasting and polyuria may be present in utero and result in polyhydramnios. Anorexia and vomiting generally develop immediately after birth. Symptoms are similar to those observed in mineralocorticoid deficiency. Salt craving is observed in older children. Vomiting is usually the only symptom in those with early childhood hyperkalemia.

In multiple target organ defects (MTOD) PHA-I, salt-wasting episodes develop soon after birth and usually are more severe than in renal PHA-I. Individuals with MTOD PHA-I have a high incidence of lower respiratory tract involvement secondary to impaired bacterial killing, resulting from increased sodium chloride concentration in airway surface fluid, which can mimic cystic fibrosis.

With respect to PHA type II (PHA-II), a condition has been described in children (Spitzer-Weinstein syndrome) that is characterized by short stature, hyperkalemic metabolic acidosis, blood pressure within the reference range, and reference range aldosterone levels. Urolithiasis may be present.


Physical Examination

In symptomatic individuals with renal PHA-I, failure to thrive, weight loss, vomiting, and dehydration may appear as early as the first 2 weeks of life. Affected individuals experience repeated episodes of dehydration and may appear to be in shock and comatose. Weight loss may occur. If therapy is delayed, patients may become severely undernourished, and failure to thrive becomes evident during infancy. Affected individuals have a marked tendency to develop low blood volume and hypotension, just like individuals with true hypoaldosteronism.

In children with the early childhood hyperkalemia variant of renal PHA-I, failure to thrive or growth retardation is the only physical finding. Hypertension is absent.

In MTOD PHA-I, the clinical picture is similar to that seen in renal PHA-I, but symptoms may be more severe. These individuals may have recurrent episodes of dyspnea, cyanosis, fever, tachypnea, and intercostal retractions. Crackles may be auscultated over pulmonary fields.

Individuals with PHA-II, in contrast to those with PHA-I, are usually volume-expanded and hypertensive. Hypertension is limited to adolescent or adult individuals and is the cardinal feature of adults with this syndrome. Short stature is the cardinal feature in children, who are usually asymptomatic. Because hypertension during adolescence or young adulthood is usually the initial sign, this syndrome is often called adolescent hyperkalemic syndrome.

Children with the chloride shunt syndrome have blood pressure within the reference range (Spitzer-Weinstein syndrome). A finding of 2 affected normotensive children (aged 4 and 11 years) and an older affected sibling (aged 21 years) in the same family suggests that Gordon syndrome and Spitzer-Weinstein syndrome are the same genetic entity. In fact, hypertension may be absent in adults and present in children. Muscular weakness and periodic paralysis have been described in children with Gordon syndrome.

A case study by Korkut et al described dermal findings in a neonatal patient with pseudohypoaldosteronism. Due to the loss of salt, miliaria rubra as well as unusual sebum buildup in the eye as a result of a malfunction in the sodium channels were noted as typical dermal findings. [13]