Pseudohypoaldosteronism Differential Diagnoses

Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Stephen Kemp, MD, PhD more...

Updated: May 16, 2012

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Diagnostic Considerations

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

Addison disease
Chronic renal failure
Isolated hypoaldosteronism
Nephronophthisis
Obstructive uropathy^[12]
Salt-wasting nephropathies

Differential Diagnoses

Proceed to Workup

Contributor Information and Disclosures

Author

Alicia Diaz-Thomas, MD, MPH Assistant Professor of Pediatrics, University of Tennessee Health Science Center, Memphis

Alicia Diaz-Thomas, MD, MPH is a member of the following medical societies: American Academy of Clinical Endocrinology, Endocrine Society, and Tennessee Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Jose F Pascual-y-Baralt, MD Chief, Division of Pediatric Nephrology, San Antonio Military Pediatric Center; Clinical Professor, Department of Pediatrics, University of Texas Health Science Campus

Jose F Pascual-y-Baralt, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Military Surgeons of the US, and International Society of Nephrology

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Robert J Ferry Jr, MD, Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Nothing to disclose

Lynne Lipton Levitsky, MD Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor of Pediatrics, Harvard Medical School

Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Pfizer Grant/research funds P.I.; Tercica Grant/research funds Other; Eli Lily Grant/research funds PI; NovoNordisk Grant/research funds PI

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References

Melzi ML, Guez S, Sersale G, et al. Acute pyelonephritis as a cause of hyponatremia/hyperkalemia in young infants with urinary tract malformations. Pediatr Infect Dis J. Jan 1995;14(1):56-9. [Medline].
Geller DS, Zhang J, Zennaro MC, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol. 2006;17:1429-1436. [Medline].
Chitayat D, Spirer Z, Ayalon D, Golander A. Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance. Acta Paediatr Scand. Jul 1985;74(4):619-22. [Medline].
Hogg R, Marks J, Marver D, Frolich J. Long-term observation in a patient with pseudohypoaldosteronism. Pediatr Nephrol. 1991;5:205-210. [Medline].
Huang CL, Cha SK, Wang HR, Xie J, Cobb MH. WNKs: protein kinases with a unique kinase domain. Exp Mol Med. 2007;39:565-73. [Medline].
Tobias JD, Brock JW III, Lynch A. Pseudohypoaldosteronism following operative correction of unilateral obstructive nephropathy. Clin Pediatr (Phila). Jun 1995;34(6):327-30. [Medline].
Valimaki M, Pelkonen R, Tikkanem I, Fyhriquist F. Normal renin sensitivity to atrial natriuretic peptide in Gordon's syndrome. Pediatr Nephrol. 1992;6:44-45. [Medline].
Sheridan MB, Fong P, Groman JD, et al. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 2005;14:3493-3498. [Medline].
Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, Kuribayashi E, et al. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol. Apr 8 2010;[Medline].
Mansfield TA, Simon DB, Farfel Z, et al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nat Genet. Jun 1997;16(2):202-5. [Medline].
Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet. Mar 1996;12(3):248-53. [Medline].
Mastrandrea LD, Martin DJ, Springate JE. Clinical and biochemical similarities between reflux/obstructive uropathy and salt-wasting congenital adrenal hyperplasia. Clin Pediatr (Phila). 2005;44:809-812. [Medline].
Perimenis P, Wemeau JL, Vantyghem MC. Hypercalciuria [French]. Ann Endocrinol (Paris). 2005;66:532-539. [Medline].

Renin angiotensin aldosterone system

Table. Characteristics of Primary Pseudohypoaldosteronism (Types I and II)

Table. Characteristics of Primary Pseudohypoaldosteronism (Types I and II)

Details	PHA Type I			PHA Type II
Details	Renal PHA-I	MTOD PHA-I	Early Childhood Hyperkalemia	PHA-II
Synonyms	Classic PHA of infancy, Cheek and Perry syndrome, autosomal dominant PHA-I, subtype 4 RTA IV	Autosomal recessive PHA-I	Subtype 5 RTA IV	Adolescent hyperkalemic syndrome, Spitzer-Weinstein syndrome, subtype 3 RTA IV	Gordon syndrome, mineralocorticoid-resistant hyperkalemia, chloride shunt syndrome
Age	Newborn period, infancy	Newborn period, infancy	Infancy, childhood	Childhood	Adulthood
Organs	Kidney	Kidney, sweat glands, salivary glands, colon	Kidney	Kidney	Kidney
Genetics	Autosomal dominant, sporadic	Autosomal recessive, sporadic	Unknown	Unknown	Autosomal dominant, sporadic
Mechanism	Heterozygous MLR mutations (possible)	Defective Na transport in organs that contain ENaC	Maturation disorder in the number or function of aldosterone receptors	Chloride shunt	Chloride shunt
Serum potassium	High	High	High	High	High
Acidosis	Present	Present	Present	Present	Present
Serum sodium	Normal or low	Normal or low	Normal	Normal	Normal
PRA*	High	High	Normal or high	Normal or low	Low
Aldosterone	High	High	Normal or high	Normal or low	Low
Blood volume	Normovolemia, hypovolemia	Normovolemia, hypovolemia	Normovolemia	Hypervolemia	Hypervolemia
Blood pressure	Normal or low	Normal or low	Normal or low	Normal or low	Normal or low
GFR	Normal	Normal	Normal	Normal	Normal
Salt wasting	Renal	Renal, sweat or salivary glands, colon	Absent	Absent	Absent
Hypercalciuria	Present or absent	Absent	Absent	Present	Present
Therapy	Na supplementation, K-binding resins	High-Na, low-K diet, K-binding resins, hydrochlorothiazide	Na bicarbonate, K-binding resins	Dietary Na restriction, hydrochlorothiazide	Dietary Na restriction, hydrochlorothiazide
Prognosis	Outgrow by age 2 y	Lifelong therapy	Outgrow by age 5 y	Lifelong therapy	Lifelong therapy
Plasma renin activity. ENaC = epithelial sodium channel; GFR = glomerular filtration rate; MLR* = mineralocorticoid receptor gene; PHA = pseudohypoaldosteronism; RTA = renal tubular acidosis.

View Table List

Read more about Pseudohypoaldosteronism on Medscape

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