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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

Nanda PM, Sharma R, Jain V
Indian Pediatr 2023 Feb 15;60(1):149-150. PMID: 36786185
Günay F, Şıklar Z, Berberoğlu M
Turk J Pediatr 2022;64(3):490-499. doi: 10.24953/turkjped.2021.1443. PMID: 35899562
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

Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
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
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

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
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
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

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
Mettananda DS, de Silva KS
Ceylon Med J 2011 Jun;56(2):71-2. doi: 10.4038/cmj.v56i2.3114. PMID: 21789870
Huang CL, Kuo E, Toto RD
Curr Opin Nephrol Hypertens 2008 Mar;17(2):133-7. doi: 10.1097/MNH.0b013e3282f4e4fd. PMID: 18277144
Zennaro MC
Steroids 1996 Apr;61(4):189-92. doi: 10.1016/0039-128x(96)00011-6. PMID: 8732998

Prognosis

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
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free 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
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
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
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
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
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Recent systematic reviews

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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