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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

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

Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO
Rev Endocr Metab Disord 2023 Apr;24(2):345-363. Epub 2023 Feb 10 doi: 10.1007/s11154-023-09784-7. PMID: 36763264Free PMC Article
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
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

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
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
Schweiger B, Moriarty MW, Cadnapaphornchai MA
Curr Opin Pediatr 2009 Apr;21(2):269-71. doi: 10.1097/MOP.0b013e328325a55f. PMID: 19657313
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
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

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

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