Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Oct 6, 2021; 9(28): 8461-8469
Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8461
Table 1 Laboratory data at presentation
Parameter
Proband
Mother
Father
Reference
Height (cm) 160155168-
Weight (kg)445472-
BMI (kg/m²) 17.19 ↓22.525.518.5-24
WBC count, 109/L4.034.25.223.5-9.5
NEUT%0.600.630.6540-75
LYM%32.83534.020-50
HGB, g/L129.0122140.0115-150
Platelet count,109/L254.0267289.0125-350
RBC count, 1012/L4.544.204.833.8-5.1
Urine routine tests
Specific gravity 1.010 ↓1.0201.0201.015-1.030
Urine protein----
Urinary occult blood3+---
Urine glucose----
Urine ketone bodies----
24 h UPE, g/d0.090.010.010-0.12
Immunoglobulin A, g/L1.361.582.040.7-4.0
Immunoglobulin G, g/L1310127-15
Immunoglobulin M, g/L1.361.521.470.4-2.6
Complement C3, g/L0.64 ↓2.52.10.9-2.1
Complement C4, mg/dL12.70 ↓22.1024.5016-38
Lambda, mg/dL475.00528.00601.00313-723
Kappa, mg/dL975.00876.00930.00629-1350
Fasting plasma glucose6.88↑7.1↑5.83.9-6.1
HBA1C, %6.7↑5.454.0-6.0
Albumin, g/L48.4045.3048.0040-55
Globulin, g/L28.4025.1726.0920-40
Serum creatinine, umol/L112.3↑56.96945-105
eGFR (mL/min/1.73m²)59↓110110> 90
Serum uric acid, umol/L535.7↑362.5378.6140-420
Cystatin-C, mg/L1.47↑0.890.790-1.16
PTH, pg/mL79.40↑446012-65
Insulin autoantibody
IAA----
GADA----
ICA-40KD----
ICA-64KD----
ICA-120KD----
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.
1Male37p.ES36FDiabetes mellitus, mild renal dysfunction; one cyst in the left kidney; impaired concentration function of the renal tubulesWang et al[19]
2Female30p.H336RDiabetes mellitus; albuminuria; diabetic nephropthy, peripheral neuropathy, and diabetic retinopathy; lipid metabolism disorder; kidney stonesWang et al[20]
3Male39p.D221VDiabetes mellitus and mild renal dysfunction; microalbuminuria; epididymal cysts and bilateral hydrocele testisWang et al[21]
4Female11p.R165HLow birth weight, diabetes mellitus, and microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cystsWang et al[21]
5Female65p.E260DDiabetes mellitus; microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cystsWang et al[21]
6Female11p.G239ELow 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 kidneyLuo et al[22]