Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report

Table 1 Examination value and reference range of laboratory tests

Tests	Measured value	Reference range
Serum potassium (mmol/L)	2.56	3.5-5.3
24-h urinary potassium (mmol)	46.82	25-100
PH	7.40	7.35-7.45
Blood HCO3- (mmol/L)	25	22-27
ALD (pg/mL)1	355.586	40-310
Renin (pg/mL)1	300.452	4-38
Angiotensin II (pg/mL)1	329.740	49-310
Serum cortisol (μg/dL)2	18.33	6.02-18.4
Serum ACTH (pg/mL)2	13.72	7.2-63.3
PTH (pg/mL)	10	15-65
25-hydroxyvitamin D (ng/mL)	17.61	30-100
Corrected serum calcium (mmol/L)	1.12	2.11-2.52
Serum P (mmol/L)	1.86	0.85-1.51
Serum Mg (mmol/L)	0.69	0.75-1.02
24-h urinary calcium (mmol/L)	3.66	< 6.75
FT4 (pmol/L)	16.2	12-22
FT3 (pmol/L)	4.43	3.1-6.8
TSH (uIU/mL)	0.8	0.27-4.2
LH (uIU/mL)	4.08	2.4-12.6
FSH (uIU/mL)	3.57	3.5-12.5
PRL (uIU/mL)	644.2	102-496
E2 (pg/mL)	52.93	12.4-233
P (nmol/L)	0.72	0.181-2.84
T (nmol/L)	1.76	0.29-1.67

¹In sitting position.

²8 am.

PH: Potential of hydrogen; ALD: Aldosterone; ACTH: Adrenocorticotropic hormone; PTH: Parathyroid hormone; P: Phosphorus; Mg: Magnesium; FT₄: Serum free thyroxine; FT₃: Serum free triiodothyronine; TSH: Thyroid-stimulating hormone; LH: Luteinizing hormone; FSH: Follicle-stimulating hormone; PRL: Prolactin; E₂: Estrogen; P: Progesterone; T: Total testosterone.

Table 2 Summary of the clinical manifestations and genetic loci of previously reported patients with Kenny-Caffey syndrome type 2

	Year	Country	Fellow-up age	Sex	Inheritance patterns	Nucleotide change	Amino acid alteration	Ref.
1	2013	Switzerland	40 yr	F	De novo	c.1706G>A	p.R569H	[5]
2		India	17 yr	M	NA	c.1706G>A	p.R569H	[5]
3		Germany	10 yr	M	NA	c.1706G>A	p.R569H	[5]
4		Italy	6 mo	F	De novo	c.1706G>A	p.R569H	[5]
5		India	7 yr	M	NA	c.1531T>C	p.Y511H	[5]
6	2014	Japan	10 yr	F	De novo	c.1706G>A	p.R569H	[6]
7		Japan	16 yr	M	De novo	c.1706G>A	p.R569H	[6]
8		Japan	22 yr	F	De novo	c.1706G>A	p.R569H	[6]
9		Japan	38 yr	M	NA	c.1706G>A	p.R569H	[6]
10	2014	Canada	3 yr	F	AD	c.1706G>A	p.R569H	[7]
11		Canada	25 yr	F	NA	c.1706G>A	p.R569H	[7]
12	2014	America	NA	F	De novo	c.1706G>A	p.R569H	[8]
13	2017	Australia	6 yr	F	NA	c.1622C> A	p.S541Y	[9]
14	2019	China	10 yr	F	NA	c.1706G>A	p.R569H	[10]
15	2020	Brazil	18 yr	M	De novo	c.1706G>A	p.R569H	[11]
16	2020	China	23 yr	M	De novo	c.1621T>C	p.S541P	[12]
17		China	23 yr	M	De novo	c.1621T>C	p.S541P	[12]
18	2020	America	20 mo	M	De novo	c.968G>A	p.G323E	[13]
19	2020	Brazil	10 yr	F	De novo	c.1706G>A	p.R569H	[14]
20	2021	India	9 yr	F	NA	g.58920847G>A	p.R569H	[15]
21	2021	Turkey	NA	M	AR	c.976T>A	NA	[16]
						c.1714_1716del
22	2021	China	18 yr	F	De novo	c.1706G>A	p.R569H	Our patient
23	2023	Japan	56 yr	F	NA	c.1706G>A	p.R569H	[17]

F: Female; M: Male; NA: Not applicable; AR: Autosomal recessive; AD: Autosomal dominant.