Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene

Hormone Research in Paediatrics

Volumn 73, Issue 6, 2010, Pages 482-486

  Loomba Albrecht, Lindsey A ^a   Nagel, Mato ^b   Bremer, Andrew A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Center for Nephrology and Metabolic Disorders   (Germany)

Author keywords

Fludrocortisone; Mineralocorticoid resistance; NR3C2; Pseudohypoaldosteronism

Indexed keywords

18 HYDROXYCORTICOSTERONE; ALDOSTERONE; BICARBONATE; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; MINERALOCORTICOID RECEPTOR; POTASSIUM; SODIUM;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BICARBONATE BLOOD LEVEL; BODY HEIGHT; BODY WEIGHT; CALORIC INTAKE; CASE REPORT; CHILD GROWTH; CONGENITAL ADRENAL HYPERPLASIA; FAILURE TO THRIVE; GENETIC ANALYSIS; HUMAN; HYPERKALEMIA; INFANT; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MOTHER; NEWBORN PERIOD; PATIENT COMPLIANCE; PLASMA RENIN ACTIVITY; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; PSEUDOHYPOALDOSTERONISM TYPE 1; SODIUM BLOOD LEVEL; SODIUM DEPLETION;

FAILURE TO THRIVE; HUMANS; HYPERKALEMIA; INFANT; INFANT, NEWBORN; MALE; MUTATION; PSEUDOHYPOALDOSTERONISM; RECEPTORS, MINERALOCORTICOID;

EID: 77952315280     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000281290     Document Type: Article

References (22)

1. Zennaro MC, Lombes M: Mineralocorticoid resistance. Trends Endocrinol Metab 2004; 15: 264-270.
2. Geller DS: Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005; 62: 513-520.
3. Hanukoglu: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 1991; 73: 936-944.
4. Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996; 12: 248-253.
5. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998; 19: 279-281.
6. Kuhnle U, Guariso G, Sonega M, Hinkel GK, Hubl W, Armanini D: Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants. Horm Res 1993; 39: 152-155.
7. Schoen EJ, Bhatia S, Ray GT, Clapp W, To TT: Transient pseudohypoaldosteronism with hyponatremia-hyperkalemia in infant urinary tract infection. J Urol 2002; 167: 680-682.
8. Bulchmann G, Schuster T, Heger A, Kuhnle U, Joppich I, Schmidt H: Transient pseudohypoaldosteronism secondary to posterior urethral valves - a case report and review of the literature. Eur J Pediatr Surg 2001; 11: 277-279.
9. Deppe CE, Heering PJ, Viengchareun S, Grabensee B, Farman N, Lombes M: Cyclosporine A and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: a cell-based model to investigate partial aldosterone resistance in kidney transplantation. Endocrinology 2002; 143: 1932-1941.
10. Tallec LP, Kirsh O, Lecomte MC, Viengchareun S, Zennaro MC, Dejean A, Lombes M: Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: implication of small ubiquitin-related modifier 1 modification. Mol Endocrinol 2003; 17: 2529-2542.
11. Rogerson FM, Fuller PJ: Interdomain interactions in the mineralocorticoid receptor. Mol Cell Endocrinol 2003; 200: 45-55.
12. Mangelsdorf DJ, Thummel C, Beato M, Herrlich P, Schutz G, Umesono K, Blumberg B, Kastner P, Mark M, Chambon P, Evans RM: The nuclear receptor superfamily: the second decade. Cell 1995; 83: 835-839.
13. Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC: Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat 2007; 28: 33-40.
14. Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG: Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab 2001; 86: 2056-2059.
15. Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, Haws R, Metzger D, Botelho B, Karaviti L, Haqq AM, Corey H, Janssens S, Corvol P, Lifton RP: Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006; 17: 1429-1436.
16. Riepe FG: Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009; 72: 1-9.
17. Morton JA: The clinical usefulness of breast milk sodium in the assessment of lactogenesis. Pediatrics 1994; 93: 802-806.
18. Neville MC, Keller R, Seacat J, Lutes V, Neifert M, Casey C, Allen J, Archer P: Studies in human lactation: milk volumes in lactating women during the onset of lactation and full lactation. Am J Clin Nutr 1988; 48: 1375-1386.
19. Benchimol C, Zavilowitz B, Satlin LM: Developmental expression of ROMK mRNA in rabbit cortical collecting duct. Pediatr Res 2000; 47: 46-52.
20. Cheek DB, Perry JW: A salt wasting syndrome in infancy. Arch Dis Child 1958; 33: 252-256.
21. Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombes M, Zennaro MC: Different inactivating mutations of the mineralocorticoid receptor in 14 families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 2003; 88: 2508-2517.
22. Belot A, Ranchin B, Fichtner C, Pujo L, Rossier BC, Liutkus A, Morlat C, Nicolino M, Zennaro MC, Cochat P: Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant 2008; 23: 1636-1641.