U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pseudohypoaldosteronism Type 1, Autosomal Recessive(PHA1B)

MedGen UID:
258573
Concept ID:
C1449843
Disease or Syndrome
Synonym: Pseudohypoaldosteronism, Type I, Autosomal Recessive
 
OMIM®: 264350

Definition

A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss. [from ORPHANET]

Clinical features

From HPO
Renal salt wasting
MedGen UID:
375868
Concept ID:
C1846347
Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Pseudohypoaldosteronism
MedGen UID:
18721
Concept ID:
C0033805
Disease or Syndrome
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Hyperactive renin-angiotensin system
MedGen UID:
335401
Concept ID:
C1846345
Finding
An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.

Professional guidelines

PubMed

Günay F, Şıklar Z, Berberoğlu M
Turk J Pediatr 2022;64(3):490-499. doi: 10.24953/turkjped.2021.1443. PMID: 35899562
Bandhakavi M, Wanaguru A, Ayuk L, Kirk JM, Barrett TG, Kershaw M, Högler W, Shaw NJ
Eur J Endocrinol 2021 May;184(5):K15-K20. doi: 10.1530/EJE-20-0152. PMID: 33690157
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676

Recent clinical studies

Etiology

Bandhakavi M, Wanaguru A, Ayuk L, Kirk JM, Barrett TG, Kershaw M, Högler W, Shaw NJ
Eur J Endocrinol 2021 May;184(5):K15-K20. doi: 10.1530/EJE-20-0152. PMID: 33690157
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Smith DJ, Gaffney EA, Blake JR
Respir Physiol Neurobiol 2008 Nov 30;163(1-3):178-88. Epub 2008 Mar 20 doi: 10.1016/j.resp.2008.03.006. PMID: 18439882

Diagnosis

Furusho T, Uchida S, Sohara E
Hypertens Res 2020 Aug;43(8):733-743. Epub 2020 Apr 14 doi: 10.1038/s41440-020-0437-x. PMID: 32286498
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Zennaro MC, Lombès M
Trends Endocrinol Metab 2004 Aug;15(6):264-70. doi: 10.1016/j.tem.2004.06.003. PMID: 15358279
Warnock DG
Semin Nephrol 1999 Jul;19(4):374-80. PMID: 10435675
Dillon MJ, Leonard JV, Buckler JM, Ogilvie D, Lillystone D, Honour JW, Shackleton CH
Arch Dis Child 1980 Jun;55(6):427-34. doi: 10.1136/adc.55.6.427. PMID: 7002056Free PMC Article

Therapy

Furusho T, Uchida S, Sohara E
Hypertens Res 2020 Aug;43(8):733-743. Epub 2020 Apr 14 doi: 10.1038/s41440-020-0437-x. PMID: 32286498
Healy JK
Hypertension 2014 Apr;63(4):648-54. Epub 2014 Jan 6 doi: 10.1161/HYPERTENSIONAHA.113.02187. PMID: 24396028
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J
Curr Opin Nephrol Hypertens 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. PMID: 22080857
Zennaro MC
Steroids 1996 Apr;61(4):189-92. doi: 10.1016/0039-128x(96)00011-6. PMID: 8732998
Proesmans W, Geussens H, Corbeel L, Eeckels R
Am J Dis Child 1973 Oct;126(4):510-6. doi: 10.1001/archpedi.1973.02110190418013. PMID: 4783665

Prognosis

Huneif MA, Alhazmy ZH, Shoomi AM, Alghofely MA, Heena H, Mushiba AM, AlSaheel A
J Clin Res Pediatr Endocrinol 2022 Jun 7;14(2):244-250. Epub 2021 Apr 8 doi: 10.4274/jcrpe.galenos.2021.2020.0175. PMID: 33829730Free PMC Article
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676
Smith DJ, Gaffney EA, Blake JR
Respir Physiol Neurobiol 2008 Nov 30;163(1-3):178-88. Epub 2008 Mar 20 doi: 10.1016/j.resp.2008.03.006. PMID: 18439882
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Clinical prediction guides

Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K
Endocr J 2023 Jul 28;70(7):723-729. Epub 2023 May 19 doi: 10.1507/endocrj.EJ22-0607. PMID: 37081692
Bahena-Lopez JP, Gamba G, Castañeda-Bueno M
Curr Opin Nephrol Hypertens 2022 Sep 1;31(5):471-478. Epub 2022 Jul 15 doi: 10.1097/MNH.0000000000000820. [Epub ahead of print] PMID: 35894282
San-Cristobal P, de los Heros P, Ponce-Coria J, Moreno E, Gamba G
Am J Nephrol 2008;28(5):860-70. Epub 2008 Jun 12 doi: 10.1159/000139639. PMID: 18547946Free PMC Article
Smith DJ, Gaffney EA, Blake JR
Respir Physiol Neurobiol 2008 Nov 30;163(1-3):178-88. Epub 2008 Mar 20 doi: 10.1016/j.resp.2008.03.006. PMID: 18439882
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...