High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Berendse, Kevin; Engelen, Marc; Linthorst, Gabor E; van Trotsenburg, AS Paul; Poll-The, Bwee Tien

doi:10.1186/s13023-014-0133-5

Orphanet Journal of Rare Diseases

Table 1 Clinical, laboratory and genetic findings in 24 patients with a mild ZSD

From: High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

	Case	Present age,y	Age at test,y	C26:0 in plasma around time of Synacthen	Average C26:0 in plasma*	Basal ACTH	Basal cortisol /30’/60’ after injection	Clinical symptoms	Plasma renin levels	Phenotype		PEXmutation¹
				C26:0 in plasma around time of Synacthen	Average C26:0 in plasma*	Basal ACTH	Basal cortisol /30’/60’ after injection		Plasma renin levels	Communication	Motor function
				(0.45-1.32)	(0.45-1.32); STD	(1-55)	(>550)		(0-7.5)	Communication	Motor function
Adrenal insuf.	1	6.6	5.9	10.28	7.75; 1.57	100	203 / 275 / 290	asymp	5.5	++	++	PEX1 c.2528G > A
	2	4.4	2.8	7	6.28; 1.13	180	201 / 254 / 260	asymp	5.5	++	++	PEX1 c.2528G > A
	3	20.4	18.5	4.63	5.45; 2.47	#	112 / 273 / 306	asymp	5.1	─	─	PEX1 c.2528G > A/ c.2097insT
	4	8.4	3.0	4.43	4.93; 0.99	#	200 / 260 / 190	v	>576	─	+	PEX1 c.2528G > A
	5	14.5	12.2	3.38	3.87; 1.37	5140	185 / 203 / 167	hp	4.9	+	++	PEX1 c.2528G > A
	6	24.7	22.9	2.73	2.90; 0.78	66	156 / 203 / 202	hp, mp	2.7	++	─	PEX26 c.292C > T
	7	11.8	10.1	2.28	2.40; 0.34	390	535 / 477 / 524	asym	6.3	+	++	PEX1 c.2528G > A
	8	24.3	24.2	2.44	4.91; 3.98	53	428 / 734 / 781			+	─	PEX1 c.2528G > A
	9	24.2	23.8	2.79	4.13; 1.10	44	441 / 624 / 624			+	─	PEX1 c.2528G > A/ unknown
	10	6.8	5.8	3.38	3.94; 1.06	nd	370 / nd / 990			─	─	PEX1 c.2528G > A
	11	10.3	9.1	3.78	3.94; 1.15	17	125 / 458 / 607			─	─	PEX1 c.2528G > A/ c.2097insT
	12	8.7	8.2	3.21	3.77; 0.69	35	85 / 425 / 557			++	++	PEX1 c.2528G > A
	13	29.8	29.4	3.7	3.71; 0.78	27	902 / 1079 / 1090			++	+	PEX1 c.2528G > A/ unknown
	14	22.8	22.2	3.51	2.69; 1.28	26	306 / 629 / 701			++	++	PEX1 c.2528G > A
	15	17.3	16.9	2.35	2.45; 0.46	20	270 / 601 / 698			++	++	PEX1 c.2528G > A
	16	35.0	34.6	3.31	2.17; 0.67	9	342 / 624 / 648			++	++	PEX1 c.2528G > A
	17	19.0	18.6	1.63	1.82; 0.46	25	430 / 668 / 778			++	++	PEX1 c.2528G > A
	18	8.1	7.5	1.24	1.78; 0.18	44	571 / 726 / 690			++	++	PEX1 c.2528G > A
	19	11.8	11.2	1.2	1.53; 0.35	33	189 / 601 / 687			++	++	PEX1 c.2528G > A
	20	8.3	7.6	0.81	1.50; 0.74	34	588 / 910 / 993			++	++	PEX10 c. 1A > G/ c.199C > T
	21	29.7	29.3	1.38	1.38; **	nd	215 / 620 / 705			++	++	PEX11─ c.64C > T
	22	15.4	14.6	1.8	1.38; 0.27	18	227 / 519 / 618			++	++	PEX26 c.292C > T
	23	30.3	29.9	1.98	1.35; 0.39	19	274 / 579 / 709			++	++	PEX1 c.2528G > A
	24	16.7	16.1	1.28	1.34; 0.34	17	356 / 593 / 665			++	++	PEX1 c.2528G > A

Asym = asymptomatic; hp = hyper pigmentation; mp = muscle pain; nd = not determined; STD = standard deviation, v = vomiting. ACTH in ng/l, cortisol in nmol/l, C26:0 in μmol/l, renin in ugA1/L/U.
The reference intervals are indicated between brackets and all results outside the intervals are depicted in bold.
* = average concentration of C26:0 in plasma during life, ranging from 1 analysis to 43 (median 12) analyses per patient, ** = only one C26:0 measurement, # = unreliable measurement, i.e. loss of ACTH immunoreactivity caused by hemolysis. Phenotype: - = no communication or wheelchair bound, + = non-verbal communication or walk with support, ++ = verbal communication or independent walking. ¹ = PEX mutations are homozygous if one sequence is given.

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ISSN: 1750-1172

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