High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Berendse, Kevin ^a   Engelen, Marc ^a   Linthorst, Gabor E ^a   Van Trotsenburg, A S Paul ^a   Poll The, Bwee Tien ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Adrenal insufficiency; peroxisomal disorders; Very long chain fatty acids; X linked adrenoleukodystrophy; Zellweger spectrum disorders

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; TETRACOSACTIDE;

ADOLESCENT; ADRENAL CORTEX FUNCTION; ADRENAL CORTEX INSUFFICIENCY; ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FOLLOW UP; HUMAN; NEUROLOGIC DISEASE; ZELLWEGER SYNDROME; ADDISON DISEASE; ADULT; COMPLICATION; FEMALE; MALE; PHENOTYPE; PREVALENCE;

ADDISON DISEASE; ADULT; FEMALE; HUMANS; MALE; PHENOTYPE; PREVALENCE; ZELLWEGER SYNDROME;

EID: 84907447310     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0133-5     Document Type: Article

References (13)

1. Genetics and molecular basis of human peroxisome biogenesis disorders. HR Waterham, MS Ebberink, Biochim Biophys Acta 2012 1822 1430 1441 10.1016/j.bbadis.2012.04.006 22871920
2. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. M Engelen, S Kemp, M de Visser, BM van Geel, RJA Wanders, P Aubourg, BT Poll-The, Orphanet J Rare Dis 2012 7 51 10.1186/1750-1172-7-51 22889154
3. Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome. S Goldfischer, CL Moore, AB Johnson, AJ Spiro, MP Valsamis, HK Wisniewski, RH Ritch, WT Norton, I Rapin, LM Gartner, Science 1973 182 62 64 10.1126/science.182.4107.62 4730055
4. Adrenal insufficiency. W Arlt, B Allolio, Lancet 2003 361 1881 1893 10.1016/S0140-6736(03)13492-7 12788587
5. Mechanisms and clinical consequences of critical illness associated adrenal insufficiency. PE Marik, Curr Opin Crit Care 2007 13 363 369 10.1097/MCC.0b013e32818a6d74 17599004
6. Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger. L Govaerts, L Monnens, T Melis, F Trijbels, Eur J Pediatr 1984 143 10 12 10.1007/BF00442740 6096149
7. Further analysis of the disturbed adrenocortical function in the cerebro-hepato-renal syndrome of Zellweger. L Govaerts, WG Sippell, L Monnens, J Inherit Metab Dis 1989 12 423 428 10.1007/BF01802037 2560099
8. A correlative study of the adrenal cortex in adreno-leukodystrophy-evidence for a fatal intoxication with very long chain saturated fatty acids. JM Powers, HH Schaumburg, AB Johnson, CS Raine, Invest Cell Pathol 1980 3 353 376 7462018
9. Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. RA Knazek, WB Rizzo, JD Schulman, JR Dave, J Clin Invest 1983 72 245 248 10.1172/JCI110963 6874949
10. Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro. RW Whitcomb, WM Linehan, RA Knazek, J Clin Invest 1988 81 185 188 10.1172/JCI113292 2891726
11. Altered Adrenocortical Response under the Influence of Experimentally Increased Serum Very Long Chain Fatty Acids in Rats. C Van Den Branden, R Collumbien, F Roels, G Dacremont, H Roels, Pathol Res Pract 1993 189 558 562 10.1016/S0344-0338(11)80366-3 8397390
12. Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome. S Goldfischer, JM Powers, AB Johnson, S Axe, FR Brown, HW Moser, Virchows Arch A Pathol Anat Histopathol 1983 401 355 361 10.1007/BF00734851 6415912
13. Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. JM Powers, HH Schaumburg, Am J Pathol 1974 76 481 491 4212914