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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.

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Author

Alicia Diaz-Thomas, MD, MPH Associate Professor of Pediatrics, University of Tennessee Health Science Center College of Medicine

Alicia Diaz-Thomas, MD, MPH is a member of the following medical societies: Endocrine Society, International Society for Clinical Densitometry, Pediatric Endocrine Society, 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 School of Medicine at San Antonio

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, International Society of Nephrology

Disclosure: Nothing to disclose.

Chief Editor

Robert P Hoffman, MD Professor and Program Director, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Pediatric, Endocrinology, Diabetes, and Metabolism, Nationwide Children's Hospital

Robert P Hoffman, MD is a member of the following medical societies: American College of Pediatricians, American Diabetes Association, American Pediatric Society, Christian Medical and Dental Associations, Endocrine Society, Midwest Society for Pediatric Research, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

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: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

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.

Pseudohypoaldosteronism Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

Pseudohypoaldosteronism Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

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