Figure and Table | High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the 　 c.1559del Gene Variant

Table 1. Characteristics of the Patients and ALPL Gene Analysis.

From: High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant

No.	Age	Sex	Complaint	Fracture	ALP (normal range: 38-113) (U/L)	Ca (normal range: 8.8-10.1) (mg/dL)	iCa (normal range: 2.41-2.72) (mEq/L)	Urine Ca/creatinine (normal range: <0.1) (g/g・Cre)	25 OH-vitamin D (normal range: >20) (ng/L)	Abdominal echo or CT	BMI lumbar spine/femur (%)	Genomic study (all heterozygous)	Diagnosis
1	44	F	None	0	30	9.4	n.d.	n.d.	12.4	Normal image	96/91	c.1559del	Carrier
2	62	M	False aneurysm	1	23	9.7	n.d.	n.d.	n.d.	Renal cyst (l)	129/90	c.613G>A	Adult type
3	49	M	Muscle pain, migraine arthralgia (knee joints)	0	19	9.9	2.92	2.9/27.16	n.d.	Normal image	110/87	c.529G>A c.1559del	Adult type
4	37	M	Migraine arthralgia (hip joint)	1	29	9.5	n.d.	n.d.	n.d.	Normal image	118/108	c.529G>A	Adult type
5	61	F	Kidney calcification	0	27	9.5	2.76	16.9/80.91	19.1	Renal cyst calcification	92/76	c.1559del	Adult type
6	53	M	None	10	28	9.3	2.84	n.d.	n.d.	Renal cyst (r and l)	87/73	c.1171dup	Pediatric type
7	30	F	Muscle pain migraine arthralgia	1	33	9.6	2.69	n.d.	12.6	n.d.	85/90	c.529G>A	Adult type
8	53	M	None	3	29	9.5	2.61	7.2/110.83	20.9	Calcification	77/79	c.979T>C	Adult type
9	59	M	None	2	19	9.6	2.72	4.5/25.46	19.8	Renal cyst kidney stones	81/85	c.1559del	Adult type
10	56	M	Hyperlipidemia, heart valve disease, enthesopathy	0	20	9.3	2.63	19/106.9	28.9	Calcification, kidney stones, hydronephrosis	140/105	c.1559del	Adult type
11	54	F	Hypoplasia of tooth enamel	2	36	9.8	2.79	2.4/29.09	48.6	Calcification	109/97	c.1559del	Adult type
Reference ⁽²⁶⁾	0	M	Short stature, respiratory failure, muscle weakness, no calcification of skull	0	12	10.4				Kidney stone	Not done	c.1559del/ c.1276G>A	Perinatal type

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