Journal of Nephrology & Renal Therapy Category: Clinical Type: Review Article
Debut of Polyglandular Autoimmune Syndrome Type 2 (Schmidt Syndrome) in a Patient with Chronic Kidney Disease of Unknown Etiology in Peritoneal Dialysis
- Iyad Abuward Abu-Sharkh1*, Igor Romaniouk Jakovler2, Suleyka Puello Martinez2, Manuel Fidalgo Díaz2, Nisrine Arhda2, Marta Pais Seijas2, Candido Díaz Rodriguez2
- 1 Nephrology Department, University Clinical Hospital Of Santiago De Compostela, Spain
- 2 Department Of Nephrology, University Clinical Hospital Of Santiago De Compostela, Spain
*Corresponding Author:Iyad Abuward Abu-Sharkh
Nephrology Department, University Clinical Hospital Of Santiago De Compostela, Spain
Received Date: Aug 03, 2018 Accepted Date: Nov 06, 2018 Published Date: Nov 21, 2018
A 36-year-old woman with end-stage renal disease of unknown etiology in long-standing peritoneal dialysis who went to the emergency room for marked arterial hypotension and was subsequently diagnosed with autoimmune polyglandular syndrome. We present the evolution, the clinic and the treatment of the syndrome.
The patient received the following peritoneal dialysis pattern: 3 exchanges of 2000 cc with physioneal 35 to 1.36%, and negative balances of -700-800 ml / day. An echocardiogram was performed with the following findings: undilated cardiac chambers. Hyperdynamic left ventricular function. Chest radiology: rule out acute pathology. Abdominal ultrasound: kidneys of small size 6 cm, difficult to delimit, intra-abdominal fluid in relation to peritoneal dialysis.
Under suspicion of an undiagnosed adrenal insufficiency syndrome, ACTH, cortisol, aldosterone and anti-alpha 21 hydroxylase levels were requested, these being negative important elevation of ACTH (1812 pg/ml) and a low cortisol (2.3 µg/dl). A Synacthen test was done and it was positive, with a clear absence of elevation pf plasma cortisol. Water replacement is performed, treatment is initiated Fludrocortisone 0.1/day and Hydrocortisone 50 mg /8 hour, gradually improving the patient, and being discharged home at home with maintenance treatment 7 days later after stabilization. Subsequently, the immunological study reflects the presence of positive anti-adrenal antibodies being diagnosed the patient of autoimmune adrenal insufficiency, diabetes mellitus was ruled out, Anti GAD/64k, Anti-IA, and Anti insulin antibodies were negative. Two sisters of the patient, aged 32 and 40, were studied and were positive with anti-TPO antibodies, one of them asymptomatic and the other with clinical hypothyroidism.
|Polyglandular Autoimmune Syndrome I||
|Occurs in childhood|
|Polyglandular Autoimmune Syndrome 2||
|Vitiligo Atrophic Gastritis Autoimmune Hepatitis Pernicious Anemia Hypogonadism Alopecia Myasthenia gravis||
Adolescence and adults
|Polyglandular Autoimmune Syndrome 3||3A (thyroid + DM1) 3B (thyroid + gastrointestinal diseases), 3B (Thyroid + skin diseases) and 3D (thyroid + collagen diseases)||Other endocrine affection||Adults|
|Polyglandular Autoimmune Syndrome 4||(adrenal involvement + hypogonadism)||
Type 1: Also known as APECED (Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal dystrophy) a very rare entity, as a very low incidence 1/80000, and a very variable prevalence, is more frequent in populations with a high degree of consanguinity . It has an autosomal recessive pattern of inheritance and is associated with the mutation of the AIRE autoimmune regulatory gene , located on chromosome 21q22.3. Its main components are mucocutaneous candidiasis, adrenal insufficiency and hypoparathyroidism, for its diagnosis the syndrome must have at least two of its main components, it can also be associated with other autoimmune disorders such as gonadal insufficiency, vitiligo, and celiac disease alopecia among others. Its main components usually appear at 3-5 years and before 20 years.
Type 2: It is the most frequent of the polyglandular syndromes, affects more women 3:1, and as a prevalence of 2-4.5: 100000 inhabitants. Appears in adulthood from 3-4 decade of life, is of autosomal dominant inheritance with incomplete penetrance, it is believed that there is a polygenic predisposition of chromosome 6. In some studies has been a relationship between the appearance of the disease and the presence of alleles B8 and DR3 of HLA and in adrenal insufficiency with DR3 and DR4. This makes it necessary to rule out involvement in first-degree relatives . Its main components are, involvement of the adrenal gland and thyroid gland (Schmidt Syndrome) or the adrenal gland and pancreas (carpenter syndrome) may be associated with other effects of other organs such as gonadal failure, myasthenia, celiac disease [6,7].
Type 3: It is the association of thyroid disease with other autoimmune diseases that affect other organs where the adrenal is not found, depending on the affected organs it is classified in / 3A (thyroid + DM1) 3B (thyroid + gastrointestinal diseases), 3B (Thyroid + skin diseases) and 3D (thyroid + collagen diseases) all of autoimmune etiopathogenesis, as a poorly defined inheritance pattern, but seems to be dominant. It appears in adults and is very rare presentation .
Type 4: Encompasses endocrine diseases that do not appear in previous classifications such as (adrenal involvement + hypogonadism), is rare and appears in adults, and remains poorly defined genetic patron .
Recall that adrenal glands are divided both anatomically and functionally into two parts: cortex and medulla. In turn, the cortex is subdivided into three zones: glomeruli, produced mainly by aldosterone, the main mineral-corticoid, which contributes to the electrolyte balance through the homeostasis of sodium and potassium. The fasciculate zone is responsible for the synthesis of glucocorticoids, such as cortisol, which affects glucose metabolism and normal cellular function .
With the destruction of the gland, on the one hand, low levels of cortisone stimulate ACTH-CRH, increasing levels of ACTH causing hyper pigmentation. On the other hand, the deficit of cortisol decreases gluconeogenesis, producing hypoglycemia, asthenia and muscular fatigability. As the glomerular zone is destroyed, plasma renin levels and angiotensin II, increase to maintain a normal aldosterone secretion, until finally there is a deficit in mineralocorticoid secretion . The treatment is hormone replacement, and sympthoms treatment .
DISCLOSURE OF POTENTIAL CONFLICTS OF INTEREST
RESEARCH INVOLVING HUMAN PARTICIPANTS AND/OR ANIMALS
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Citation:Abuward Abu-sharkh I, Jakovler IR, Martinez SP, Díaz MF, Arhda N, et al. (2018) Debut of Polyglandular Autoimmune Syndrome Type 2 (Schmidt Syndrome) in a Patient with Chronic Kidney Disease of Unknown Etiology in Peritoneal Dialysis. J Nephrol Renal Ther 4: 019
Copyright: © 2018 Iyad Abuward Abu-Sharkh, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.