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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]

Professional guidelines

PubMed

Successful Management of Systemic Pseudohypoaldosteronism Type 1 in an Infant.
Nanda PM, Sharma R, Jain V
Indian Pediatr 2023 Feb 15;60(1):149-150. PMID: 36786185
Difficulties in the diagnosis and management of eight infants with secondary pseudohypoaldosteronism.
Günay F, Şıklar Z, Berberoğlu M
Turk J Pediatr 2022;64(3):490-499. doi: 10.24953/turkjped.2021.1443. PMID: 35899562
Prevalence, diagnosis, and management of secondary pseudohypoaldosteronism.
Memoli E, Lava SAG, Bianchetti MG, Vianello F, Agostoni C, Milani GP
Pediatr Nephrol 2020 Apr;35(4):713-714. Epub 2019 Dec 20 doi: 10.1007/s00467-019-04419-z. PMID: 31863208

Recent clinical studies

Etiology

Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Pseudohypoaldosteronism.
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Inherited forms of mineralocorticoid hypertension.
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
Modelling mucociliary clearance.
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
Familial pseudohypoaldosteronism.
Popow C, Pollak A, Herkner K, Scheibenreiter S, Swoboda W
Acta Paediatr Scand 1988 Jan;77(1):136-41. doi: 10.1111/j.1651-2227.1988.tb10612.x. PMID: 2967023

Diagnosis

Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.
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
WNK1 in the kidney.
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
Diagnostic approach to low-renin hypertension.
Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P
Clin Endocrinol (Oxf) 2018 Oct;89(4):385-396. Epub 2018 Jun 6 doi: 10.1111/cen.13741. PMID: 29758100
Pseudohypoaldosteronism.
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Mineralocorticoid resistance.
Zennaro MC, Lombès M
Trends Endocrinol Metab 2004 Aug;15(6):264-70. doi: 10.1016/j.tem.2004.06.003. PMID: 15358279

Therapy

The WNK signaling pathway and salt-sensitive hypertension.
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
Pseudohypoaldosteronism type II: history, arguments, answers, and still some questions.
Healy JK
Hypertension 2014 Apr;63(4):648-54. Epub 2014 Jan 6 doi: 10.1161/HYPERTENSIONAHA.113.02187. PMID: 24396028
Pseudohypoaldosteronism type 1 in an infant.
Mettananda DS, de Silva KS
Ceylon Med J 2011 Jun;56(2):71-2. doi: 10.4038/cmj.v56i2.3114. PMID: 21789870
WNK kinases and essential hypertension.
Huang CL, Kuo E, Toto RD
Curr Opin Nephrol Hypertens 2008 Mar;17(2):133-7. doi: 10.1097/MNH.0b013e3282f4e4fd. PMID: 18277144
Mineralocorticoid resistance.
Zennaro MC
Steroids 1996 Apr;61(4):189-92. doi: 10.1016/0039-128x(96)00011-6. PMID: 8732998

Prognosis

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, Chrousos G, Schild L, Chrysis D
Am J Physiol Endocrinol Metab 2023 Jul 1;325(1):E1-E9. Epub 2023 May 3 doi: 10.1152/ajpendo.00332.2022. PMID: 37134141
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Modelling mucociliary clearance.
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
Familial pseudohypoaldosteronism.
Popow C, Pollak A, Herkner K, Scheibenreiter S, Swoboda W
Acta Paediatr Scand 1988 Jan;77(1):136-41. doi: 10.1111/j.1651-2227.1988.tb10612.x. PMID: 2967023
Renin-angiotensin-aldosterone system.
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Clinical prediction guides

Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.
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
WNK1 in the kidney.
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
Modelling mucociliary clearance.
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
Molecular biology of Na+ absorption.
Barbry P, Hofman P
Am J Physiol 1997 Sep;273(3 Pt 1):G571-85. doi: 10.1152/ajpgi.1997.273.3.G571. PMID: 9316461
Renin-angiotensin-aldosterone system.
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Recent systematic reviews

Transient secondary pseudo-hypoaldosteronism in infants with urinary tract infections: systematic literature review.
Betti C, Lavagno C, Bianchetti MG, Kottanattu L, Lava SAG, Schera F, Lacalamita MC, Milani GP
Eur J Pediatr 2024 Oct;183(10):4205-4214. Epub 2024 Jul 10 doi: 10.1007/s00431-024-05676-3. PMID: 38985174Free PMC Article

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