Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2006) 11 P87

ECE2006 Poster Presentations Clinical case reports (128 abstracts)

Gitelman’s syndrome in pregnant, type 1 diabetic patient presented with foetal growth retardation, and bilateral hydronephrosis and hydroureter

MA Elrishi , A Kilvert , B Sirnivasan & I Lawrence


University Hospitals of leicester, Leicester, United Kingdom.


Gitelman’s syndrome (GS) is an autosomal recessive primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency. The association of GS and type 1 diabetes is rare1, and bilateral hydronephrosis and hydroureter has not been reported.

A 18-year-old female with known GS diagnosed at 17 years of age and type 1 diabetes diagnosed at 15 years of age was admitted to Leicester Royal Infirmary for premature delivery by caesarean section due to foetal growth retardation at 27 weeks. Patient had history of poor control diabetes with HbA1c 11.2% during pregnancy, reduced to 7.8% postpartum, and moderate renal impairment mainly during her pregnancy (creatinine 247 micromol/l, comparing to 115 just before pregnancy). She was noted to be short, and had congenital skin disorder diagnosed previously as Cutis marmorata telangictatica congenita.

Postpartum laboratory profile revealed increased serum creatinine to 342-micromol/l. 24-hour urine collection for protein was 1.52 g/l. Renal ultrasounds scans showed bilateral hydronephrosis and hydroureter.

Laboratory profile of her premature baby showed, low magnesium and hypokalemia, which corrected by TPN feeding. Genetic analysis needed to confirm the diagnosis of Gitelman’s syndrome.

This is the first reported case of bilateral hydronephrosis and hydroureter in the setting of GS. Bilateral hydronephrosis and hydroureter secondary to chronic polyurea reported in Bartter’s syndrome. In GS, putative loss-of-function mutation in the thiazide-sensitive NaCl cotransporter located in the apical membrane of the distal convoluted tubule leads to polyuria, inappropriate kaliuresis, and hypomagnesaemia.

1- Farhad Zangeneh, Myra Chiang, et al, Pitfalls in the Laboratory Diagnosis of Diabetic Ketoacidosis in Gitelman’s Syndrome. Diabetes Care 26:955, 2003.

Volume 11

8th European Congress of Endocrinology incorporating the British Endocrine Societies

European Society of Endocrinology 
British Endocrine Societies 

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