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Table 1 Patient’s clinical manifestation

From: A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

Phenotype

Emerge age

Relevant examination results

Diabetes Mellitus (insulin dependent)

6 years old

The level of fasting blood glucose was fluctuated from 8 to 10 mmol/L while the arrival at our center;

HbA1c: 8.00%;

Release of C-peptide after arginine infusion: 0 min➔0.013 nmol/L (0.039 ng/ml); 2 min➔0.035 nmol/L (0.105 ng/ml); 3 min➔0.037 nmol/L (0.111 ng/ml); 5 min➔0.036 nmol/L (0.110 ng/ml);

Glutamic acid decarboxylase (GAD) antibodies (+).

Sensorineural deafness

14 years old

Pure tone average hearing level: 60-65 dB;

Air bone gap≦10 dB;

Acoustic impedance audiometry: type A tympanogram of both sides;

Contralateral and ipsilateral acoustic stapedius reflex positive on both sides.

Optic nerve atrophy

19 years old

Visual acuity: count fingers at 15 cm (bilateral);

Funduscopy: pallor retina and optic nerve with unclear cup to disc ratio;

Brain MRI: bilateral optic nerve atrophy.

neurogenic bladder

21 years old

MRU showed bilateral dilated urinary tract;

Urodynamic study: detrusor external sphincter dyssynergia (DESD).

Partial central diabetes insipidus

21 years old

Urinary osmolality: 95.0 mOsm/kg;

Plasma osmolality: 291 mOsm/L;

Urinary gravity: 1.002;

Water-deprivation and vasopressin test showed partial central diabetes inspidus.