Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2022) 86 P72 | DOI: 10.1530/endoabs.86.P72

SFEBES2022 Poster Presentations Metabolism, Obesity and Diabetes (96 abstracts)

A novel compound heterozygous variant of Gitelman’s syndrome in a patient with Sjorgren’s syndrome: latent rather than acquired?

Genevieve Tellier 1 , Ffion Wood 2 , Catrin Searell 2 , Simeon Head 1 & Anthony Wilton 1

1Department of Endocrinology, Ysbyty Gwynedd, Betsi Cadwaladr University Health Board, Bangor, United Kingdom; 2Department of Clinical Biochemistry, Ysbyty Gwynedd, Betsi Cadwaladr University Health Board, Bangor, United Kingdom

Gitelman’s syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations of the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter (NCCT). Hypokalaemia, hypomagnesaemia, hypocalciuria and metabolic alkalosis are consequent. Sjorgren’s syndrome (SS) is a connective tissue disorder primarily affecting lacrimal and salivary glands resulting in sicca complex. The coincidental presence of both syndromes is rare. A 28 year old female presented with hypokalaemia (2.8 mmol/l) and hypomagnesaemia (0.52 mmol/l). Potassium levels 3 and 17 years earlier were 3.5 and 3.4 mmol/l respectively. Six months earlier a diagnosis of SS was made when she presented with a painful, swollen right parotid gland. Anti-ENA, ANA, anti-Ro and rheumatoid factor were all positive. At 7 and 12 years of age painful, swollen left and right submandibular glands respectively were removed without diagnosis. Review of the histology however suggested a diagnosis of paediatric Sjorgren’s syndrome. Investigations confirmed normal renal function, venous pH 7.46, bicarbonate 28 mmol/l, hypocalciuria (0.97 mmol/24 hours), PRA 13.9 nmol/l/hr and aldosterone 300 pmol/l. SLC12A3 gene analysis confirmed compound heterozygosity with:

1. The known mutation c.460A>T, p.(Ile54Phe) maternal heterozygous carrier, non-affected. 2. A novel c.1258-1262 del, p.ALA (420GLNFS*103) paternal heterozygous carrier, non-affected. There are 10 previous reports of GS coincidental with SS. Two reported heterozygous mutations, 4 reported absence of mutations and in 4 mutations were not sought. The acquired cases of GS were attributed to antibodies to the NCCT.

The apparent late onset of the GS in our case could be due to:

1. Latent hypofunction of NCCTs induced by the compound heterozygous mutations with compensation mechanisms.

2. The development of auto-antibodies to the NCCTs overriding the compensatory mechanisms.

3. A combination of a. and b.

Volume 86

Society for Endocrinology BES 2022

Harrogate, United Kingdom
14 Nov 2022 - 16 Nov 2022

Society for Endocrinology 

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