TABLE 2.

Characteristics of the Dutch cohort with DBH‐deficiency and follow‐up of catecholamines, kidney function, hemoglobin, and magnesium before and during treatment

Patient number	Sex (M/F)	FU before diagnosis (y)	Age at diagnosis (y)	FU after diagnosis (y)	Catechol‐amines (plasma)		Kidney function		Anemia		Magnesium
					Before treatment NE/E/DA	During treatment NE/E/DA	Before treatment	During treatment	Before treatment	During treatment	Serum Mg2+ before treatment	Fractional Mg2+ excretion before treatment (%)	Serum Mg2+ during treatment	Fractional Mg2+ excretion during treatment (%)
3	F	1	26	21	↓↓↓ ↓↓↓ ↑↑↑	↓↓ − ↑↑	↓	N− ↓↓	+	+	N
4	F	15	20	17	↓↓↓ ↓↓↓ ↑↑↑	↓↓ ↓↓↓ −	N− ↓↓	N− ↓↓	+	+	N−↓
8	F	3	34	18	↓↓↓ ↓↓↓ ↑	↓ ↓↓↓ ↑↑	N−↓	N−↓	+	+	N	↑	N	N
9 Sib 10,11	M	1	45	11	↓↓̂ ↓̂ ↑↑	− − −	↓↓− ↓↓↓	↓↓− ↓↓↓	+	+	↓↓		↓	↑↑ a
10 Sib 9,11	F	4	36	11	↓↓̂ ↓↓↓ ↑↑	− − −	↓	↓− ↓↓	+	+	N		N	N
11 Sib 9,10	F	9	40	15	↓↓↓ ↓↓↓ ↑	↓ ↓↓↓ −	↓↓	↓− ↓↓	+	+	↓↓	↑↑	↓− ↓↓	↑− ↑↑
19 Sib 25	F	23	23	15	↓↓↓ ↓↓↓ ↑↑↑	↓↓ ↓↓ ↑↑	↓↓	↓− ↓↓	+	+	N−↓	↑	N−↓	↑
23	F	2	38	6	↓↓↓ N ↑↑↑	↓↓ N ↑↑	↓− ↓↓	↓− ↓↓	++	++	↓		N−↓
24	M	0	13	1	urine ↓↓↓ ↓↓↓ ↑↑↑	−	↓	↓	−	−	N	↑	N	↑
25 Sib 19	M	0	35	1	↓↓↓ ↓↓↓ ↑↑↑	− ↓↓↓ ↑↑	N−↓	N−↓	+	+	N	↑	N	↑

Note: Representation of follow‐up data of the Dutch patients. Catecholamines: NE: norepinephrine, E: epinephrine, DA: dopamine. ↓: low (below reference value), ↓↓: very low (< 10% of local lower reference value), ↓↓↓: extremely low (< 5% of local lower reference value or below detection limit), ↑↑: very high (> two times local upper reference value), ↑↑↑: extremely high (> five times local upper reference limit), N: normal, ^probable overestimation due to technical reasons. ⁶ Kidney function: N: normal (eGFR>90 mL/min/1.73 m²), ↓: mildly decreased (eGFR 60‐90 mL/min/1.73 m²), ↓↓: moderately decreased (eGFR 30–59 mL/min/1.73 m²), ↓↓↓: severely decreased (eGFR 15–29 mL/min/1.73 m²). Anemia: − absent, + present (mild), ++ present (moderate). Magnesium: ↓: mildly decreased, ↓↓: moderately decreased ↑: increased, N = normal. Fractional magnesium excretion: normal value 2% to 4%. n = normal, ↑ = 4% to 10% ↑↑ > 10%.

Abbreviations: F, female. FU, follow‐up. M, male; y, years.

^aFractional magnesium excretion calculation unreliable due to eGFR<40 mL/min/1.73 m².