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

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]