Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Bertholet-Thomas, Aurélia; Berthiller, Julien; Tasic, Velibor; Kassai, Behrouz; Otukesh, Hasan; Greco, Marcella; Ehrich, Jochen; de Paula Bernardes, Rejane; Deschênes, Georges; Hulton, Sally-Ann; Fischbach, Michel; Soulami, Kenza; Saeed, Bassam; Valavi, Ehsan; Cobenas, Carlos Jose; Hacihamdioglu, Bülent; Weiler, Gabrielle; Cochat, Pierre; Bacchetta, Justine

doi:10.1186/s12882-017-0633-3

BMC Nephrology

Table 2 Results

From: Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Variables	Developing nations		Developed nations		p
	N	Median [min-max]/N (%)	N	Median [min-max]/N (%)
Demographic features	109		104
Sex ratio (M/F)	84	42/42 (50.0/50.0)	103	52/51 (50.5/49.5)	0.94^c
Age at diagnosis (yrs)	108	1.5 [0.0–33.0]	104	1.3 [0–9.7]	0.04^a
Follow-up until diagnosis	108	4.55 [0.0–26.2]	104	5 [0.75–33.6]	0.02^a
Age at last visit (yrs)	109	8.0 [0.5–35.0]	103	13 [1.2–38.6]	0.001^a
Diagnosis before 2 yrs. of age	108	63 (58.3)	103	68 (66.0)	0.25
SD weight	77	−3.6 [−9.3–2.3]	101	−0.8 [−6.4–4.2]	<0.0001^b
SD height	75	−3.5 [−11.7–1.7]	100	−1.58 [−7.5–1.8]	<0.0001^a
CTNS mutation analysis	102	23 (22.6)	97	68 (70.1)	<0.0001^c
Distance centre – home (km)	68	60 [1–1000]	91	50 [0–20,000]	0.11^a
Number of visit	99	5 [4–7]	97	4 [4–6]	0.74^a
Cysteamine Treatment
Patient treated	106	57 (53.8)	101	101 (100.0)	<0.0001^c
Age at treatment (yrs)	57	2.0 [0.0–33.0]	100	1.5 [0.0–12.0]	0.02^a
Patients treated before 2.5 years of age	57	29 (50.9)	100	73 (73.0)	0.005^c
Median dose (mg/m² per day)	53	1050 [100–1800]	98	1265 [157–2769]	0.0002^a
Other treatments
Indomethacin	95	13 (13.7)	100	58 (58.0)	<0.0001^c
rhGH	95	10 (10.5)	100	56 (56.0)	<0.0001^c
Tube feeding	95	2 (2.1)	102	27 (26.5)	<0.0001^d
Cysteamine eye drops	105	22 (20.9)	98	87 (88.8)	<0.0001^c
Number of drops per eye per day	22	6 [1–14]	91	4 [0–20]	0.05^a
Renal follow up
ESRD	109	58 (53.2)	103	39 (37.9)	0.03^c
Age at ESRD	58	8.0 [0.5–17.5]	35	10·0 [4.0–19.5]	0.0008^a
Transplanted patients	56	34 (60.7)	38	31 (81.6)	0.86^c
Delay between ESRD and graft (yrs)	34	2 [0–14]	28	1 [0–11]	0.25^a
Patients on dialysis (PD/HD)	28	22/6	20	9/11	0.02

SD standard deviation, ESRD end stage renal disease, PD peritoneal dialysis, HD hemodialysis
^aWilcoxon test
^bStudent test
^cChi-square test
^dFisher test

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