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PubMed This is a summary of 36 peer-reviewed journal articles Updated
Pediatric Nephrology

An Introduction to Renal PHA1

At a Glance

Renal Pseudohypoaldosteronism Type 1 (Renal PHA1) is a genetic condition causing infants to lose salt in their urine due to aldosterone resistance. Fortunately, as the kidneys mature, this condition typically resolves completely on its own by age 2 or 3, allowing children to live normal lives.

Receiving a diagnosis of Renal Pseudohypoaldosteronism Type 1 (Renal PHA1) for your child can be overwhelming and frightening. However, there is a powerful and stabilizing fact to hold onto: unlike many other genetic conditions, Renal PHA1 typically resolves on its own as a child grows. Most children see their symptoms disappear by age 2 or 3 and go on to lead entirely normal, healthy lives [1][2].

Understanding the “Aldosterone Resistance”

To understand Renal PHA1, it helps to look at how the body manages salt. Normally, a hormone called aldosterone tells the kidneys to keep salt (sodium) in the body and get rid of potassium. In children with Renal PHA1, the body produces plenty of aldosterone—often at very high levels—but the kidneys “ignore” the message [3][4].

This happens because of a change in the NR3C2 gene [5][6]. This gene is responsible for building the mineralocorticoid receptor (MR), which acts like a “lock” that aldosterone (the “key”) must fit into to work. In Renal PHA1, these locks in the kidney are either missing or don’t function correctly, leading to aldosterone resistance [5][7]. Because the kidney cannot “hear” the signal to save salt, the salt is lost in the urine, leading to low sodium and high potassium levels in the blood [8].

Why Does It Resolve?

The reason this condition usually clears up by age 2 or 3 is due to the natural maturation of the kidneys. As a child grows, other systems in the kidney begin to take over the job of salt regulation, making the child less dependent on the specific “locks” controlled by the NR3C2 gene [1][9].

Distinguishing Between the Types of PHA

It is important to know that “Renal PHA1” is different from other forms of the condition. Your care team will work to ensure your child has this specific type, which has the best long-term outlook.

Feature Renal PHA1 (PHA1a) Systemic PHA1 (PHA1b) Secondary (Transient) PHA
Primary Cause Genetic (NR3C2 gene mutation) [5] Genetic (ENaC channel mutations) [10] Non-genetic (UTIs or kidney blockages) [11]
Organs Involved Only the Kidneys [12] Multiple (Lungs, skin, colon, kidneys) [13] Usually limited to the Kidneys [14]
Typical Outlook Resolves by age 2–3 [1] Lifelong management required [9] Resolves once infection/blockage is treated [15]
Symptoms Salt loss in urine [8] Salt loss plus skin rashes and lung issues [16] Salt loss during illness [11]

Inheritance and Family

Renal PHA1 follows an autosomal dominant inheritance pattern [17][3]. This means a child only needs to inherit one copy of the changed gene to have the condition. Interestingly, many parents who carry this gene change have no symptoms at all as adults, though they may have had undiagnosed salt-wasting as infants [2][18]. Testing a parent’s aldosterone levels can sometimes reveal if the gene was passed down or if it started new with the child [18].

Navigating This Guide

This resource is designed to help you advocate for your child at every step of their journey:

01

Symptoms and Diagnosis of Renal PHA1

Learn about Renal PHA1 symptoms in infants and how it is diagnosed. Understand key lab results like low sodium, high potassium, and the NR3C2 genetic test.

02

Treatment and Daily Management of Renal PHA1

Learn how to manage your infant's Renal PHA1. Discover daily sodium supplementation tips, spit-up protocols, and how to spot a salt-wasting crisis early.

03

Prognosis and Long-Term Outlook

Learn about the excellent long-term prognosis for Renal PHA1. Understand how children outgrow the condition by age 3, salt tapering, and future monitoring.

Common questions in this guide

Will my child outgrow Renal PHA1?
Yes, unlike many genetic conditions, Renal PHA1 typically resolves on its own by age two or three. As your child grows, their kidneys mature and develop other ways to regulate salt, allowing them to lead normal, healthy lives.
What causes Renal PHA1?
It is caused by a change in the NR3C2 gene, which normally helps the kidneys retain salt. This mutation prevents the kidneys from responding to the hormone aldosterone, leading to excess salt loss in the urine.
Is Renal PHA1 the same as Systemic PHA1?
No, they are different conditions. Renal PHA1 only affects the kidneys and usually resolves in early childhood. Systemic PHA1 involves multiple organs, such as the lungs and skin, and requires lifelong medical management.
How is Renal PHA1 inherited?
It follows an autosomal dominant inheritance pattern, meaning a child only needs one copy of the changed gene to develop the condition. Many parents who carry this gene have no symptoms as adults.
Should parents be tested if their child has Renal PHA1?
Your doctor may recommend checking the parents' aldosterone and renin levels. This can help determine if the gene was inherited from an asymptomatic parent or if it is a new genetic change that started with the child.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific mutation was found in my child's NR3C2 gene?
  2. 2.Have we definitively ruled out Secondary PHA by checking for urinary tract infections or kidney structural issues?
  3. 3.Should we (the parents) have our aldosterone and renin levels checked to see if one of us is an asymptomatic carrier?
  4. 4.What are the typical differences in management if my child has a novel mutation versus a well-documented one?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    When salt is needed to grow: Answers.

    Conversano E, Romano S, Taddio A, et al.

    Pediatric nephrology (Berlin, Germany) 2021; (36(5)):1131-1132 doi:10.1007/s00467-020-04647-8.

    PMID: 32778955
  2. 2

    Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.

    Calissendorff J, Falhammar H

    Endocrine 2025; (87(3)):1285-1290 doi:10.1007/s12020-024-04120-8.

    PMID: 39614070
  3. 3

    A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

    Nishizaki Y, Hiura M, Sato H, et al.

    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2016; (25(4)):135-138 doi:10.1297/cpe.25.135.

    PMID: 27780983
  4. 4

    Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.

    Abdalla A, Alhassan MA, Tawfeeg R, et al.

    Endocrinology, diabetes & metabolism case reports 2021; (2021()).

    PMID: 34165441
  5. 5

    Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2.

    Morikawa S, Komatsu N, Sakata S, et al.

    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2015; (24(3)):135-8 doi:10.1297/cpe.24.135.

    PMID: 26594094
  6. 6

    A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

    Kawashima Sonoyama Y, Tajima T, Fujimoto M, et al.

    Endocrine journal 2017; (64(1)):83-90 doi:10.1507/endocrj.EJ16-0280.

    PMID: 27725360
  7. 7

    30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

    Zennaro MC, Fernandes-Rosa F

    The Journal of endocrinology 2017; (234(1)):T93-T106 doi:10.1530/JOE-17-0089.

    PMID: 28348114
  8. 8

    A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.

    Coelho Almeida A, Bastos Gomes M, Martins SA, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(11)):1448-1452 doi:10.1515/jpem-2022-0201.

    PMID: 35918792
  9. 9

    Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings.

    Pugh CP

    Cureus 2022; (14(4)):e23918 doi:10.7759/cureus.23918.

    PMID: 35530903
  10. 10

    Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

    Joshi K, Verma PK, Barman M

    EJIFCC 2022; (33(3)):268-273.

    PMID: 36447799
  11. 11

    Secondary Pseudohypoaldosteronism Associated With Mild Hydronephrosis in a Newborn.

    Kodo K, Goto S, Katsumi Y

    Cureus 2021; (13(2)):e13462 doi:10.7759/cureus.13462.

    PMID: 33777551
  12. 12

    Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.

    Wang Z, Long L, Bi H

    Molecular genetics & genomic medicine 2026; (14(1)):e70173 doi:10.1002/mgg3.70173.

    PMID: 41457049
  13. 13

    Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

    Hanukoglu I, Hanukoglu A

    Gene 2016; (579(2)):95-132.

    PMID: 26772908
  14. 14

    Transient pseudohypoaldosteronism in infancy mainly manifested as poor appetite and vomiting: Two case reports and review of the literature.

    Tuoheti Y, Zheng Y, Lu Y, et al.

    Frontiers in pediatrics 2022; (10()):895647 doi:10.3389/fped.2022.895647.

    PMID: 36090572
  15. 15

    Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection.

    Abraham MB, Larkins N, Choong CS, Shetty VB

    Journal of paediatrics and child health 2017; (53(5)):458-463 doi:10.1111/jpc.13481.

    PMID: 28233358
  16. 16

    The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment.

    Bolaç Özyılmaz LG, Türkyılmaz A, Akbay ÖP, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(3)):297-302 doi:10.1515/jpem-2025-0372.

    PMID: 41275343
  17. 17

    Autosomal Dominant Pseudohypoaldosteronism Type 1 in a Newborn With Failure to Thrive.

    Krishna S, Augustian M

    Cureus 2024; (16(4)):e59356 doi:10.7759/cureus.59356.

    PMID: 38689677
  18. 18

    Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.

    Hanukoglu A, Vargas-Poussou R, Landau Z, et al.

    The Journal of steroid biochemistry and molecular biology 2020; (204()):105755 doi:10.1016/j.jsbmb.2020.105755.

    PMID: 33017655

This guide is for informational purposes only and does not replace professional medical advice. Always consult your pediatric nephrologist regarding your child's Renal PHA1 diagnosis and electrolyte management.

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