Pseudohypoaldosteronism jama pediatrics jama network. Secondary or transient pseudohypoaldosteronism associated with urinary tract anomaly and urinary infection. Pdf duodenal web masquerading as pseudohypoaldosteronism. Sodium balance studies showed an abnormal urinary salt loss in the presence. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. A group of disorders involving an electrolyte imbalance due to the kidneys inability to respond to aldosterone. Pseudohypoaldosteronism type ii pha ii, also referred to as gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner.
Hypoaldosteronism an overview sciencedirect topics. The authors have no conflicts of interest to declare. Pseudohypoaldosteronism type 1 genetics home reference nih. Systemic pseudohypoaldosteronism pha type i is a rare genetic disorder resulting from mutations in the subunits of the epithelial. Pseudohypoaldosteronism an overview sciencedirect topics. Pseudohypoaldosteronism in a neonate presenting as life. This case presented to the ed at an age of 14 days in. Autosomal dominant pseudohypoaldosteronism type 1 in an. The most commonly reported causes of the aldosterone resistance syndrome include treatment with potassiumsparing diuretics and antibiotic therapy with.
Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Pseudohypoaldosteronism may be more common than has been thought and new techniques for investigating saltwasting disorders may show its true incidence. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Management issues r ajni s harma, m eenu p andey, s andeep k umar k anwal, and m aria c hristina z ennaro1,2,3 from the department of pediatrics, division of pediatric intensive care, lady hardinge medical college and. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 pha be confidently made. Pubmed is a searchable database of medical literature and lists journal articles that discuss pseudohypoaldosteronism type 2. She was aggressively managed with intravenous fluids, potassiumlowering agents, highdose sodium chloride supplementation and peritoneal dialysis.
The omission is the more surprising because at least 40 cases of this disorder have been reported. Get a printable copy pdf file of the complete article. In this article we report a patient with systemic pha type i presenting with severe dehydration due to salt wasting at 6 days of life. Pseudohypoaldosteronism type 1 pha1 is a lifethreatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Two unrelated male infants with pseudohypoaldosteronism are reported. Kaplowitztransient pseudohypoaldosteronism due to urinary tract infection in. Here, we firstly report on the japanese child of pha ii caused by a mutation of. Transient pseudohypoaldosteronism due to urinary tract. High levels of aldosterone are present in all reported cases and renin levels are increased in most.
Pseudohypoaldosteronism type 1 in an infant mafiadoc. The serum aldosterone level and plasma renin activity were grossly elevated, confirming the diagnosis of pseudohypoaldosteronism. Pseudohypoaldosteronism pha is a condition that mimics hypoaldosteronism. For language access assistance, contact the ncats public information officer. Though mutations in wnk1 and wnk4 partially account for this disorder, in 2012, 2 research groups showed that klhl3 and cul3 were the causative genes for pha ii. More detailed information about the symptoms, causes, and treatments of pseudohypoaldosteronism is available below. Secondary or transient pseudohypoaldosteronism associated. Primary renal pha1 or autosomal dominant pha1 is caused by mutations in mineralocorticoids receptor gene nr3c2, while secondary pha1 is frequently associated with urinary tract infection uti andor urinary tract malformations utm. Pseudohypoaldosteronism type i genitourinary disorders. Pseudohypoaldosteronism type 2 genetics home reference nih. Diagnosis and management of pseudohypoaldosteronism type 1 in. Pseudohypoaldosteronism in a neonate presenting as lifethreatening arrhythmia. Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux.
First, the diagnosis of transient pseudohypoaldosteronism needs to be a strong consideration in any infant presenting with hyponatremia and hyperkalemia after the first few weeks of life, by which time most cases of congenital adrenal hyperplasia have been diagnosed, either based on newborn screening or a saltlosing crisis. Systemic pseudohypoaldosteronism pha type i is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. Sweat and salivary glands, the distal renal tubule, and colonic mucosa are unresponsive to mineralocorticoids. In 4 familial cases of autosomal dominant type i pseudohypoaldosteronism and in 1 sporadic patient, geller et al. Pseudohyperaldosteronism also pseudoaldosteronism is a medical condition that mimics hyperaldosteronism. Click on the link to view a sample search on this topic. Pseudohypoaldosteronism pha is a syndrome which is characterized by saltwasting and failure to thrive, usually presenting in infancy and accompanied by. Pseudohypoaldosteronism is a rare syndrome of mineralocorticoid resistance presenting in the. Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. By continuing to use our website, you are agreeing to our use of cookies. Autosomal recessive pseudohypoaldosteronism type 1. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Get a printable copy pdf file of the complete article 869k, or click on a page image below to browse page by page.
Unlike hyperaldosteronism, it involves aldosterone levels that are normal or low hypoaldosteronism. Pseudohypoaldosteronism pha is a rare heterogeneous syndrome of mineralocorticoid. Pseudohypoaldosteronism type 1 pha1 is a rare autosomal recessive disease characterized by. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. In affected members of a japanese family with pha1a, tajima et al. Pseudohypoaldosteronism pha is a group of disorder characterized by mineralocorticoid end organ resistance and severe salt wasting in the absence of any renal or adrenal defect. Symptoms may result from hypotension, hypovolemia, hyponatremia, and hyperkalemia. Three cases of pha, two with renal pha1 and one with secondary pha. Here, we firstly report on the japanese child of pha. Hypoaldosteronism answers are found in the johns hopkins diabetes guide powered by unbound medicine. Repeat 17 hydroxy progesterone done on the 48th day of life was also normal at 0.
Pseudohypoaldosteronism pha is a term applied to a heterogeneous group of rare. We report a newborn girl with lifethreatening hyperkalemia and salt wasting crisis due to severe autosomal recessive multiple target organ dysfunction pseudohypoaldosteronism type 1 mtod pha1. Links to pubmed are also available for selected references. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Pseudohypoaldosteronism type ii phaii is characterized by hyperkalemia despite normal glomerular filtration rate gfr and frequently by hypertension. Pseudohypoaldosteronism type i is a group of rare hereditary disorders that cause the kidneys to retain too much potassium but excrete too much sodium and water, leading to hypotension. Impaired aldosterone action includes the syndrome of aldosterone resistance or pseudohypoaldosteronism characterized by elevated levels of plasma aldosterone and clinical manifestations of hypoaldosteronism and sodiumwasting states due to excessive treatment with mineralocorticoid antagonists. The actual level of aldosterone may range from high to low. Type 1 pseudohypoaldosteronism pha1 was first described in 1958 by cheek and perry.
Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Like hyperaldosteronism, it produces hypertension associated with low plasma renin activity, and metabolic alkalosis associated with hypokalemia. This uniquely early and dramatic presentation was attributed to immaturity of the proximal renal tubule at 32 weeks gestation. Type 1 pseudohypoaldosteronism pha is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. Full text full text is available as a scanned copy of the original print version. Pseudohypoaldosteronism is a condition characterized by salt loss in multiple organs in infancy. Pha2 is clinically characterised by hypertension, hyperkalaemia, metabolic acidosis and normal renal function. Despite two decades of its recorded history,1 pseudohypoaldosteronism is not listed in standard medical dictionaries among their more than 250 entries prefixed by pseudo. Pseudohypoaldosteronism type 2 genetic and rare diseases. Type 1 pseudohypoaldosteronism pha1 is a salt wasting syndrome caused by renal resistance to aldosterone. Download fulltext pdf clinical features and molecular basis of pseudohypoaldosteronism type 1 article pdf available in clinical pediatric endocrinology 263. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Pseudohypoaldosteronism pha comprises a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Download pdf check for updates abstractexcerpt full text pdf related cases summary. Multiple target involvement in pseudohypoaldosteronism. Pseudohypoaldosteronism symptoms, diagnosis, treatments. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. If you have problems viewing pdf files, download the latest version of adobe reader. Genetic testing for pseudohypoaldosteronism, other and. It is manifested by hyperkalemia, metabolic acidosis, and a normal glomerular filtration rate gfr. Pseudohypoaldosteronism type 1 pha1 is a condition characterized by problems regulating the amount of sodium in the body.
Pseudohypoaldosteronism type 2 pha2 is caused by problems that affect regulation of the amount of sodium and potassium in the body. However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback inhibition. Introduction we present the case of a 5monthold girl with duodenal web masquerading as pseudohypoaldosteronism pha. Clinical and molecular features of type 1 pseudohypoaldosteronism. Pseudohypoaldosteronism pha is a term applied to a heterogeneous group of rare disorders linked by association with hyperkalaemia, metabolic acidosis, normal glomerular function and apparent renal tubular unresponsiveness or resistance to mineralocorticoids. Pdf type 1 pseudohypoaldosteronism pha is a rare heterogeneous group of. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext.