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Hormone disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Pseudohypoaldosteronism type 1 is a rare disorder characterised by salt wasting in infancy, and caused by certain organs being unresponsive to mineralocorticoids. The latter are steroid hormones that are necessary for the regulation of salt and water balance. Salt wasting occurs when the kidneys excrete large amounts of salt even though the body appears to need it.
Ureteroceles in the newborn
Published in Prem Puri, Newborn Surgery, 2017
Jonathan F. Kalisvaart, Andrew J. Kirsch
The clinical presentation of ureteroceles in infants and children is a febrile urinary tract infection in 39%–73.5% of the cases.7,17–19 Sepsis, hematuria, urinary incontinence, and/or flank pain can be present. Nonspecific symptoms such as failure to thrive, irritability, urinary retention, or recurrent vomiting should also lead to further investigation of the urinary tract. In cases of severe obstruction and consequent gross megaureter and hydronephrosis, a palpable mass may be present in the abdomen or in the pelvis. Severe electrolyte disturbances, such as hyperkalemia, may occur, and in very rare cases of hyponatremia and hyperkalemia, pseudohypoaldosteronism should be suspected.20
Fluid and electrolyte disorders
Published in Philip E. Harris, Pierre-Marc G. Bouloux, Endocrinology in Clinical Practice, 2014
Ploutarchos Tzoulis, Pierre-Marc G. Bouloux
Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by renal resistance to the actions of A; patients exhibit salt wasting, hyperkalemia, and metabolic acidosis, despite elevated serum A levels. It is caused by loss-of-function mutations in ENaC (autosomal recessive PHA1) or MC-R (autosomal dominant PHA1).
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report
Published in Paediatrics and International Child Health, 2018
Marieke De Clerck, Johan Vande Walle, Evelyn Dhont, Joke Dehoorne, Werner Keenswijk
Pseudohypoaldosteronism is a rare heterogeneous syndrome characterised by systemic or renal tubular unresponsiveness to aldosterone characterised by hyponatraemia, hyperkalaemia and metabolic acidosis [4]. It has been classified into two distinct forms, namely the primarily salt-losing syndromes PHA type 1 (subdivided into primary and secondary or transient forms) and the potassium-retaining syndrome PHA type 2 (also known as familial hyperkalaemic hypertension) [6]. Primary PHA1 is characterised by mutations in the ENaC genes (encoding subunits of the epithelial sodium channel, ENaC) and MR genes (encoding the adrenal mineralocorticoid receptor), leading to systemic or renal resistance to aldosterone [6]. PHA1 is the most severe form, characterised by systemic salt-wasting associated with high plasma aldosterone and renin levels. The renal form is less severe as salt-wasting is restricted to the kidneys. Both types present with hyponatremia, life-threatening hyperkalaemia, metabolic acidosis, dehydration and failure to thrive in the neonatal period [6,7]. Pseudohypoaldosteronism type 2 (PHA type 2 or Gordon syndrome) is characterised by hyperkalaemia and hypertension with variable levels of plasma aldosterone combined with suppressed renin activity [6–8]. TPHA, a recognised but rare clinical entity, is most frequently associated with UTA and/or UTI which may induce tubular resistance to aldosterone in neonates and young infants [4,9–11]. However, the exact pathogenesis of TPHA is not completely understood and there is controversy regarding the role of microbial infection versus urine tract anomalies (UTA) as the underlying cause of mineralocorticoid resistance [4].