Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report

Table 1 Laboratory data at presentation

Parameter	Proband	Mother	Father	Reference
Height (cm)	160	155	168	-
Weight (kg)	44	54	72	-
BMI (kg/m²)	17.19 ↓	22.5	25.5	18.5-24
WBC count, 109/L	4.03	4.2	5.22	3.5-9.5
NEUT%	0.60	0.63	0.65	40-75
LYM%	32.8	35	34.0	20-50
HGB, g/L	129.0	122	140.0	115-150
Platelet count,109/L	254.0	267	289.0	125-350
RBC count, 1012/L	4.54	4.20	4.83	3.8-5.1
Urine routine tests
Specific gravity	1.010 ↓	1.020	1.020	1.015-1.030
Urine protein	-	-	-	-
Urinary occult blood	3+	-	-	-
Urine glucose	-	-	-	-
Urine ketone bodies	-	-	-	-
24 h UPE, g/d	0.09	0.01	0.01	0-0.12
Immunoglobulin A, g/L	1.36	1.58	2.04	0.7-4.0
Immunoglobulin G, g/L	13	10	12	7-15
Immunoglobulin M, g/L	1.36	1.52	1.47	0.4-2.6
Complement C3, g/L	0.64 ↓	2.5	2.1	0.9-2.1
Complement C4, mg/dL	12.70 ↓	22.10	24.50	16-38
Lambda, mg/dL	475.00	528.00	601.00	313-723
Kappa, mg/dL	975.00	876.00	930.00	629-1350
Fasting plasma glucose	6.88↑	7.1↑	5.8	3.9-6.1
HBA1C, %	6.7↑	5.4	5	4.0-6.0
Albumin, g/L	48.40	45.30	48.00	40-55
Globulin, g/L	28.40	25.17	26.09	20-40
Serum creatinine, umol/L	112.3↑	56.9	69	45-105
eGFR (mL/min/1.73m²)	59↓	110	110	> 90
Serum uric acid, umol/L	535.7↑	362.5	378.6	140-420
Cystatin-C, mg/L	1.47↑	0.89	0.79	0-1.16
PTH, pg/mL	79.40↑	44	60	12-65
Insulin autoantibody
IAA	-	-	-	-
GADA	-	-	-	-
ICA-40KD	-	-	-	-
ICA-64KD	-	-	-	-
ICA-120KD	-	-	-	-

Blood values in result column indicate the abnormal values out of the reference range. WBC: White blood cell; NEUT%: Neutrophil ratio; LYMP%: Lymphocyte ratio; HGB: Hemoglobin; RBC: Red blood cell; UPE: Urinary protein excretion; PTH: Parathyroid hormone; IAA: Insulin autoantibody; GADA: Glutamic acid decarboxylase antibody; ICA: Islet cell antibody.

Table 2 Review of previously reported hepatocyte nuclear factor 1B mutations in the Chinese population

S/N	Sex	Age at diagnosis	Amino acid change	Clinical symptoms	Ref.
1	Male	37	p.ES36F	Diabetes mellitus, mild renal dysfunction; one cyst in the left kidney; impaired concentration function of the renal tubules	Wang et al[19]
2	Female	30	p.H336R	Diabetes mellitus; albuminuria; diabetic nephropthy, peripheral neuropathy, and diabetic retinopathy; lipid metabolism disorder; kidney stones	Wang et al[20]
3	Male	39	p.D221V	Diabetes mellitus and mild renal dysfunction; microalbuminuria; epididymal cysts and bilateral hydrocele testis	Wang et al[21]
4	Female	11	p.R165H	Low birth weight, diabetes mellitus, and microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cysts	Wang et al[21]
5	Female	65	p.E260D	Diabetes mellitus; microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cysts	Wang et al[21]
6	Female	11	p.G239E	Low birth weight and diabetes mellitus; elevated levels of serum creatinine, urea, liver enzymes, and uric acid; hyperosmolality; atrophy of the pancreas; agenesis of the left kidney combined with hydronephrosis, and multiple cysts in the right kidney	Luo et al[22]