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Erschienen in:
20.04.2022 | Clinical Quiz
Three rare conditions coexisting in a proteinuric child: Answers
Erschienen in: Pediatric Nephrology | Ausgabe 11/2022
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1.
In addition to the patient’s current diagnoses, which additional diagnosis do you think will explain the growth deceleration, and which additional tests should be requested?
Type 1 diabetes mellitus (T1DM) was considered in the patient given findings of polydipsia, polyuria, and hyperglycemia. He was diagnosed with T1DM because of high HbA1c and low C-peptide levels. Relapse of NS was considered when the patient presented with proteinuria and hypoalbuminemia.
It was thought that the patient’s growth deceleration might be secondary to his existing chronic diseases. Further examinations were performed, as it was necessary to screen for additional diseases. In T1DM, some patients have been found with a higher than normal incidence of autoimmune conditions; hence, autoantibodies were checked. The antibody status of the patient was as follows: ANA ( +) (1/100), anti-ds DNA ( −), anti-sm DNA ( −), antiendomysium antibody ( +), anti-gliadin Ig A ( −), IgG ( −), and thyroid autoantibodies ( −). Total Ig A was normal, but transglutaminase Ig A (tTG) was elevated at 27.2 U/mL (0–12 U/mL), suggesting a diagnosis of celiac disease (CD). Upper gastrointestinal endoscopy was performed for further evaluation, revealing antral hyperemia and irregular mucosa of the second part of the duodenum, consistent with CD. Duodenal biopsy was also performed.
Except for growth deceleration, the patient did not have symptoms of CD such as chronic abdominal pain/cramps, chronic or intermittent constipation and/or diarrhea, anorexia, bloating, dyspeptic complaints, anemia, or recurrent aphthous ulceration. The incidence of CD in children and adolescents with T1DM is more common than in the general population, and the coexistence of T1DM and CD may be asymptomatic.
2.
What is the relationship between the current diagnoses in the patient?
In patients with CD, some have been found with a higher than normal incidence of autoimmune pathogenesis. Since both diseases share the same HLA (DR3/DR4 and DQ2/DQ8), the association between CD and T1DM may be due to a common genetic substrate [1]. More importantly, an increase in the incidence of glomerulonephritis has been reported [2‐5]. T1DM, which is the result of insulin deficiency induced by autoimmune damage of pancreatic ß cells, can be seen together with other autoimmune diseases [6]. Although the relationship between CD and T1DM is well known, its relationship with nephrotic syndrome (NS) is rarely reported [2, 3].
3.
How should the patient be managed?
Non-selective proteinuria was detected in the patient’s 24-h urine, and steroid treatment was started, considering that relapse of NS might occur. Glycemic regulation was achieved with subcutaneous insulin therapy. Meanwhile, the pathology report of the endoscopic biopsy taken from the duodenum was interpreted as partial villus atrophy, crypt hyperplasia, and an increase in the number of intraepithelial lymphocytes (celiac disease Marsh-Oberhuber score 3A). The patient was started on a gluten-free diet (GFD). Kidney biopsy was performed given the patient’s older age and presentation with a new autoimmune disease. Pathological examination revealed focal segmental glomerulosclerosis with enlargement and increase in the segmental mesangial matrix at the arterial poles in both glomeruli. No evidence of changes in vascular structures secondary to diabetes mellitus was observed (Fig. 1).
With the diagnoses of NS, DM, and CD, the patient’s proteinuria disappeared during the first month of steroid therapy, and his blood albumin level returned to normal. Steroid therapy was gradually discontinued. The patient continues to be followed up with subcutaneous insulin injections and GFD.
Fig. 1
The glomerulus shows mild increased mesangial matrix, focal minimal segmental hypercellularity, and fibrous crescent (HE × 400)
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