Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults - a case report and literature review

Sep 30, 2026

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Renal hypouricemia type 2 (RHUC2) is a rare genetic disorder caused by defective uric acid reabsorption from SLC2A9 variants, while latent autoimmune diabetes in adults (LADA) is characterized by preserved endogenous insulin secretion for a prolonged period. This report describes a 39-year-old servicewoman with long-term hyperglycemia symptoms, initially diagnosed with LADA, hypothyroidism, and hyperlipidemia, then further evaluated by uric acid indices and gene analysis. Two SLC2A9 heterozygous mutations were identified alongside additional conditions, supporting RHUC2 combined with LADA.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages11

Reading Time28 min

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Introduction

Latent autoimmune diabetes in adults (LADA) overview

Clinical differentiation from type 2 diabetes

Diagnostic criteria and C-peptide assessment

Treatment considerations and therapeutic goals

Case Presentation

Clinical presentation and initial diagnoses

Laboratory findings and follow-up evaluation

Gene analysis and final diagnoses

Conclusion

Identified SLC2A9 mutations and clinical implications

Cui etal. BMC Nephrology (2026) 27:15 [https://doi.org/10.1186/s12882-025-04626-x](https://doi.org/10.1186/s12882-025-04626-x) BMC Nephrology CASE REPORT Open Access Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults: a case report and literature review Yunyi Cui 1, Hanyue Liu 1 and Rui Dong2* Abstract Background Latent autoimmune diabetes in adults (LADA) is recognized as the most prevalent form of autoimmune diabetes in adulthood marked by a long-term preservation of endogenous insulin secretion capacity. Renal hypouricemia type 2 (RHUC2) is a rare genetic disorder characterized by defective uric acid reabsorption which results from variants in the SLC2A9 gene. Currently, there are no reported cases of RHUC2 combined with LADA. Case Presentation A 39-year-old servicewoman visited our hospital with the complaint of elevated blood glucose for 2 years and polydipsia, polyuria, numb right thumb for 4 months. Laboratory tests showed a high value of glucose in both urine and blood, total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDLC), glycosylated hemoglobin (HbA1c) and anti-glutamic acid decarboxylase antibody (GADA), and a low value of fasting immunoreactive insulin (IRI) and C-peptide (C-P) . She had a history of hypothyroidism for 6 years. Therefore, the patient was initially diagnosed with LADA, primary hypothyroidism and hyperlipidemia. Later, laboratory tests revealed an extremely low level of uric acid and a high value of fractional excretion of uric acid (FEUA). Two SLC2A9 heterozygous mutations, one PPP1R3A heterozygous mutation and one FOXD3 variation were found through gene analysis. Finally, the patient was diagnosed with RHUC2, LADA, Hashimoto’s thyroiditis, hyperlipidemia and antiphospholipid syndrome (APS) . Conclusion Two SLC2A9 heterozygous mutations, c. 227C >A and c. 1343C >T, were identified in the patient. These characteristics indicated that the patient was suffered from RHUC2 . Keywords Latent autoimmune diabetes in adults, Renal hypouricemia type 2, Hashimoto’s thyroiditis, Gene analysis, SLC2A9 heterozygous mutation *Correspondence: Rui Dong [drdongr@163.com](drdongr@163.com) 1College of Basic Medical Sciences, Naval Medical University, Shanghai 200433, China 2Department of Nephrology, Changhai Hospital, Naval Medical University, Shanghai 200433, China © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creati](http://creati)[vecommons.org/l](vecommons.org/l)icenses/by-nc-nd/4.0/. Cui et al. BMC Nephrology (2026) 27:15 Introduction Latent autoimmune diabetes in adults (LADA) is the most prevalent autoimmune diabetes form in adulthood, often termed type 1.5 diabetes due to its shared features with both type 1 (T1D) and type 2 diabetes (T2D)[1–5]. The pathogenesis of LADA closely resembles that of T1D [2], involving autoimmune-mediated destruction of pancreatic β-cells that leads to insulin deficiency [2, 3]. However, unlike T1D, which is a more aggressive phenotype characterize

FAQs

What distinguishes latent autoimmune diabetes in adults (LADA) from type 1.5 or type 2 diabetes?

LADA is an autoimmune form of diabetes in adulthood with a slower, progressive decline in β-cell function. It is often misdiagnosed as type 2 diabetes, but lower BMI, fewer metabolic syndrome features, autoimmune history, and presence of diabetes-associated autoantibodies support LADA.

How is LADA diagnosed in the article’s described framework?

Diagnosis requires adult-onset diabetes (age > 30), at least one diabetes-associated autoantibody such as GADA, and absence of insulin requirement for at least 6 months after diagnosis.

What genetic findings supported the diagnosis of renal hypouricemia type 2 (RHUC2)?

Gene analysis identified two SLC2A9 heterozygous mutations (c. 227C >A and c. 1343C >T), indicating RHUC2 in the patient, along with other reported genetic variations.

Sep 30, 2026

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