Table 1.

Overview of kidney-related renal features

	Identifier
	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	P11	P12	P13	P14	P15	P16	P17
Age at evaluation, years	11	0.3	22	24	0.9	5	10	13	13	16	0.1	0.6	10	12	13	6	0.3
Clinical diagnosis	RMS	DS	RMS	RMS	DS	DS	RMS	RMS	RMS	RMS	DS	DS	DS	RMS	RMS	RMS	DS
INSR mutation(s)	P.L109R/g.26624_26625delA	P-N431D (H)	P-P193L (H)	P-P193L (H)	P-C274Y/P-R1174W	P-R114W (H)	P-R899Q/IVS18-1G>T	P-L460E/P-L109R	P.I119M (H)	P-S608L/del ex9-10	P-Q521X (H)	P-G84Q (H)	P.I119M/P-R1039X	P-Y30X/P-E238L	R1092Q (H)	P-V66A/del ex18	IVS7 + ldelT/p.325_331 del
Weight, kg	25.2	2.0	30.9	35.0	3.7	–	24.4	36.2	37.9	38.2	1.44	3.0	19.0	35.8	12.4	12.5	2.8
Plasma creatinine,	μmol/l	13.9	30	12.8	19.4	20	20	48	20	19	13.3	20.5	12	22	22	23	8	–
Plasma total	calcium, mmol/1	2.34	2.78	2.3*	2.23*	2.51*	2.36	2.72	2.09	2.21	2.28	2.65	2.27	2.43	2.26	2.43*	2.26	–
Plasma potassium, mmol/1	3.6	4.8	4.0	4.2	3.2	3.8	3.9	3.0	–	3.9	3.8	2.8	3.6	3.8	4.2	3.5	–
Plasma chloride, mmol/1	103	96	103	104	93	–	102	102	102	104	101	98	104	103	92	–	–
Plasma tCO2, mmol/1	26	28	26	27	28	–	–	23	–	25	–	29	27	27	29	19	–
Plasma magnesium, mmol/1	0.71	1.0	0.75	0.78	0.67	–	0.8	0.65	–	0.59	0.5	0.95	0.67	–	0.95	0.64	–
Urinary calcium excretion1, mmol/kg/24 h	0.14		0.45	0.12	0.41			0.18	0.29	0.35			0.68	0.21		0.38
Presence of nephrocalcinosis	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes

Not all data were available for all patients. Plasma calcium values are not corrected for plasma albumin, unless indicated by*, as albumin levels were not available in all. Note that nephrocalcinosis was noted in all patients. Mutation annotation is according to the mature isoform B of the INSR, based on reference sequence P062134.4. Note that amino acids are numbered from the first codon of the mature receptor, which means that they are 27 less than the numbering of the reference sequence.

(H) = Homozygous.