DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20211091

Wolfram syndrome: a case report with severe polyuria and secondary urological abnormalities

Niranjan kumbara Hunasagatta Omkarappa, Prashanth Siddaiah, Shalini Sankalapura Rangaswamy, Ramu Anjanaiah, Devika Chennakeshava, Savitha Mysore RamaRaj

Abstract


Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which is also known as DIDMOAD. Classical Wolfram syndrome is a rare autosomal recessive disorder caused by mutations in WFS1, a gene involved in endoplasmic reticulum and mitochondrial function. Patients present with type 1 diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts as early as in the third decade, and various neurological abnormalities in the early fourth decade. We describe a case report of 14-year-old male child diagnosed as wolfram syndrome with type 1 diabetes mellitus, diabetes insipidus, deafness, optic atrophy and severe urological abnormalities. Patients who present with early onset insulin-dependent diabetes mellitus and optic atrophy together should be evaluated with respect to Wolfram Syndrome. If a patient, who is a known case of diabetes mellitus, presents with persistent polyuria or neurogenic bladder despite good glycemic control, suspicion of wolfram syndrome and further evaluation regarding the same must be made. Recognizing and timely management of this condition will help to improve the quality of life in the patient.


Keywords


Wolfram syndrome, Secondary urological abnormalities, Polyuria

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References


Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc.1938;13:715-8.

Barrett TG, Scott-Brown M, Seller A, Bednarz A, Poulton K, Poulton J. The mitochondrial genome in Wolfram syndrome. J Med Genet. 2000;37(6):463-6.

Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care. 1995;18(12):1566.

Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458-63.

Tranebjærg L, Barrett T, Rendtorff ND. WFS1 Wolfram syndrome spectrum disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, eds. Seattle (WA): University of Washington Press; 2009:1993-2021.

Lesperance MM, Hall JW 3rd, San Agustin TB, Leal SM. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2003;129(4):411-20.

Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Ann Neurol. 2011;69(3):501-8.

Seyhmus A, Ugur K, Ihsan C, Kaan U. Wolfram syndrome: case report and review of the literature. Compr Ther. 2007;33(1):18-20.

Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care. 1995;18(12):1566-70.

Bannwarth S, Chaussenot A, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Ann Neurol. 2011;69(3):501-8.

Ron D, Walter P. Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol. 2007;8(7):519-29.

Huang CJ, Gurlo T, Haataja L. Calcium-activated calpain-2 is a mediator of beta cell dysfunction and apoptosis in type 2 diabetes. J Biol Chem. 2010;285 (1):339-48.

Cagalinec M, Liiv M, Hodurova Z, Hickey MA, Vaarmann A, Mandel M, et al. Role of mitochondrial dynamics in neuronal development: mechanism for Wolfram syndrome. PLoS Biol. 2016;14(7):e1002511.

Nakagawa T, Yuan J. Cross-talk between two cysteine protease families. Activation of caspase-12 by calpain in apoptosis. J Cell Biol. 2000;150 (4):887-94.

Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, et al. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. Proc Natl Acad Sci. 2014;111(49):E5292-301.

Chan CH. Dantrolene sodium and hepatic injury. Neurology. 1990;40(9):1427-32.

Wek RC, Anthony TG. EXtENDINg beta cell survival by UPRegulating ATF4 translation. Cell Metab. 2006;4(5):333-4.

Hara T, Mahadevan J, Kanekura K, Hara M, Lu S, Urano F. Calcium efflux from the endoplasmic reticulum leads to β-cell death. Endocrinol. 2014; 155(3):758-68.

Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep. 2016;16(1):6.