Skip to main content
Download PDF

A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy

BMC Nephrology volume 26, Article number: 242 (2025) Cite this article

Abstract

Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent monogenic polycystic kidney disorder, but ADPKD presented as Glomerulocystic kidney (GCK) in adults is uncommon. Thin basement membrane nephropathy (TBMN) seems to account for major causes of familial hematuria and can coexist with other glomerular diseases. Here, we report a case of atypical manifestation of ADPKD presenting as GCK superimposed with TBMN in an adult man.

Case presentation

A 40-year-old male presented with moderate proteinuria, microhematuria and renal insufficiency. He has no family history of kidney disease. Ultrasound revealed slightly enlarged kidneys with echogenic cortex. 2 to 3 visible small cortical cysts on both kidneys, and no anatomical abnormalities were detected by CT scan. Renal biopsy demonstrated that 33.3% (9/27) of the glomeruli had marked dilatation of Bowman’s space. The glomerular cysts were lined by a simple layer of cuboidal epithelium, which was stained positive for Claudin-1 (parietal epithelial cell marker), but negative for LTA and DBA (tubular epithelial cell markers). There were foci of mild chronic interstitial fibrosis with few inflammatory infiltrates. Immunofluorescence stains were negative. Transmission Electron microscopy (TEM) revealed extensive glomerular basement membrane (GBM) thinning, without splitting or lamellation. The average thickness of GBM was 221 ± 25 nm. No electron dense deposits were identified by TEM. The next-generation sequencing indicated pathogenic heterozygous deletion of PKD1 exon 3, and the mutation was determined to be a de novo mutation by familial variant analysis. No pathogenic mutations of COL4A3, COL4A4, COL4A5, UMOD, TCF2 and HNF1β were identified.

Conclusion

We report a rare case of atypical ADPKD presenting as GCK superimposed with TBMN. GCK is a rare disease and often overlooked. It is important for practicing nephrologists to have a clear understanding of GCK. GCK involves in various conditions, thus genetic analysis should be considered.

Peer Review reports

Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease, affecting 1/1000 individuals worldwide, and frequently progresses to end-stage renal disease (ESRD) by the sixth decade in life [1, 2]. ADPKD results from mutations in PKD1(in 85% of the cases) or PKD2, encoding polycystin-1 and polycystin-2 respectively [3]. However, the genetic test is not commonly used due to expensive costs and complexity. In addition, ADPKD presenting with atypical clinical symptoms and negative family history is still a diagnostic challenge to clinicians [4].

Glomerular cyst is defined as Bowman capsule dilation greater than 2 to 3 times normal glomeruli [5, 6]. While, glomerulocystic kidney (GCK) refers to a kidney with more than 5% glomeruli with cysts [6]. GCK can be classified further based on clinical presentation and associated multisystem disorders [7]. GCK often occurs in early childhood but rarely in adults, which makes it difficult to diagnose in adults.

Thin basement membrane nephropathy (TBMN) is characterized by extensive (>50% of the total glomerular surface area) thinning of the glomerular basement membrane (GBM) [8, 9]. TBMN can also coexist with other glomerular diseases in the diagnosis of renal biopsy [10]. Here, we report a case of atypical manifestation of ADPKD presenting as GCK superimposed with TBMN in an adult man.

Case presentation

A 40-year-old male was admitted to our division for foamy urine. He had neither a past medical history nor a family history of kidney diseases by laboratory findings and imaging. Physical examinations were as follows: body mass index (BMI) 20.4 kg/m2, blood pressure 132/73 mmHg, normal respiratory sound, and abdominal tenderness. No hearing loss, skin rash, edema or joint pain was detected. Urinalysis showed proteinuria and microhematuria, and total protein excretion was 0.87 g/24hr. Serum creatinine was 103µmol/L, and eGFR was 81 ml/min/1.73m2. Hematocrit was 37.7%, serum albumin was 44 g/L, fasting blood glucose and HbA1c were normal, and serology was negative. Laboratory findings were showed in Table 1.

Table 1 Laboratory findings
Full size table

Ultrasound revealed slightly enlarged kidneys (right, 125 × 51 mm, left, 120 × 60 mm) with echogenic cortex. CT scan showed 2 to 3 visible small cortical cysts on both kidneys. The biggest cyst was 28 × 29 mm (Fig. 1A). The number of cysts did not meet Ravine criteria [11]. Whereas, hydronephrosis or anatomical abnormalities were not detected and there were no cysts on the liver or pancreas. In addition, numerous small renal cysts were identified on magnetic resonance imaging after genetic diagnosis (Fig. 1B).

Fig. 1
figure 1

Kidney imaging. (A) Computed tomography scan showed one cyst on right kidney. (B) Magnetic resonance imaging showed numerous small cysts on both kidneys besides the large cysts

Full size image

Renal biopsy

Percutaneous needle renal biopsy was performed. Immunofluorescence was negative for immunoglobulins or complements. 27 glomeruli were examined by light microscopy, of which 4 glomeruli were obsolescent global sclerosed, and 33.3% (9/27) of the glomeruli had marked dilatation of Bowman’s space (Fig. 2A, and 2 C). The diameter of glomerular cysts varied from 608.7 μm to 961.0 μm (the average diameter, 784.9 μm). The glomerular cysts were lined by a simple cuboidal epithelium with periglomerular fibrosis (Fig. 2D). The glomerular tuft appeared normal. In addition, there was no significant cystic dilatation of tubules. There were foci of mild chronic interstitial fibrosis (Fig. 2B) with few inflammatory infiltrates (Fig. 2B). Arteries and arterioles were unremarkable. Transmission electron microscopy (TEM) revealed extensive glomerular basement membrane thinning, without splitting or lamellation (Fig. 2E). The average thickness of GBM was 221 ± 25 nm. Neither electron dense deposits nor extensive podocyte foot process effacement were identified by TEM. The structure and thickness of Bowman’s capsule and parietal epithelial cells (PECs) appeared normal (Fig. 2F).

Fig. 2
figure 2

Histological findings in renal biopsy. (A) Scatter dilatation of Bowman’s capsule, the arrows indicate dilatation of Bowman’s capsule. (PAS stain, Scale bar represents 100 𝛍m) (B) Interstitial fibrosis. (PAS stain, scale bar represents 100 𝛍m) (C) Dilatation of Bowman’s capsule with normal glomerular tuft. (PAS stain, scale bar represents 50 𝛍m). (D) Periglomerular fibrosis. (PAS stain, scale bar represents 20 𝛍m). (E) Thinning of the glomerular basement membrane was showed by transmission electron microscopy, no electron dense deposits were found. (Scale bar represents 2 𝛍m). E. The structure and thickness of Bowman’s capsule and parietal epithelial cells appear normal by transmission electron microscopy. (Scale bar represents 2 𝛍m)

Full size image

Genetic analysis

The differential diagnosis of TBMN and GCK in this patient included Alport syndrome, PKD, GCKD and syndromic GCKD. To examine whether there were any genetic mutations, the next-generation sequencing (NGS) of whole exome was performed by BGI (Shenzhen, China). NGS indicated pathogenic heterozygous deletion of PKD1 exon 3 and heterozygous missense mutation of NPHP1 (Table 2). No pathogenic mutations of COL4A3, COL4A4, COL4A5, UMOD, TCF2 and HNF1β were identified. In addition, we performed familial segregation analysis. Both of his parents had normal renal function, negative urine test, and normal ultrasound results without any renal cysts. Both of parents’ Sanger sequencing of the pathogenic variant of PKD1 was negative. The mutation of PKD1 was confirmed to be a de novo mutation. The patient is the only child in his family, and his grandparents passed away years ago. Moreover, the Sanger sequencing of NPHP1 variants revealed that both the patient’s father and his son carried the heterozygous missense mutation of NPHP1. And the son of the patient did not carry the mutation of PKD1.

Fig. 3
figure 3

Immunohistochemical staining showed glomerular origin of the cysts. Claudin-1(red), Lotus tetragonolobus agglutinin + Dolichos biflorus agglutinin (green), DAPI(blue). Original magnification ×20 in upper panel, ×40 in middle panel, and ×100 in bottom panel

Full size image

Immunohistochemical staining

Renal tissue sections were immunostained for Claudin-1 (a PEC marker) (51-9000, Invitrogen), Lotus tetragonolobus agglutinin (LTA, a proximal tubular marker) (L32480, Invitrogen), and Dolichos biflorus agglutinin (DBA, a distal tubular marker) (L32474, Invitrogen). The immunostaining showed that the cells lining glomerular cysts were positive with Claudin-1, and did not co-localized with LTA nor DBA (Fig. 3).

Discussion

The patient in this case report presented as TBMN superimposed with GCK. There are no standard diagnostic criteria for TBMN, because the reported mean thickness of GBM varies widely. Normal thickness is usually 373 ± 42 nm in adult males and 326 ± 45 nm in adult females [13, 14]. GBM thickness < 250 nm is the lower limit cutoff of diagnostic criteria in most of studies [8, 9, 15]. The average thickness of the GBM (221 nm) in this case met the diagnostic criteria of TBMN [8, 9]. TBMN is the most frequent cause of benign familial hematuria. About 40% of patients with TBMN carry mutations at type IV collagen α3 (COL4A3) or α4 (COL4A4) gene locus [16]. However, no pathogenic mutations of COL4A3, COL4A4 and COL4A5 were identified in our case. In addition, moderate proteinuria and mild renal insufficiency in this patient were atypical in TBMN. TBMN are also seen in early Alport syndrome (AS), the carrier state of X-linked Alport, and the carrier states of autosomal recessive Alport [8, 17, 18]. AS is usually manifested by increased proteinuria and progressive renal insufficiency. Hence, the diagnosis of AS was also considered in this case. But, the absence of GBM splitting and lamellation, anterior lenticonus, and hearing loss did not correspond with AS. Furthermore, gene analysis ruled out AS.

GCKD was brought to our attention because of the scatter ectasia of Bowman’s space. GCK is not one disease, but an entity encompassing many conditions. Lennerz and colleagues divided GCK into five categories: type I, PKD presenting as a GCK variant of ADPKD/ ARPKD; type II, hereditary GCK synonymous with GCKD; type III, syndromic GCK (GCK associated with heritable malformation syndromes); type IV, obstructive GCK; and type V, sporadic GCK (with 2 subcategories: ischemic GCK and drug-induced GCK) [7]. We did not find any indication for syndromic GCKD associated malformation indicative of tuberous sclerosis, Down syndrome or Zellweger syndrome. And obstructive GCKD was ruled out in this case due to the absence of radiology evidence of urinary tract obstruction. In addition, there was no past history of primary diseases which could cause sporadic GCKD including ischemic damage, such as systemic sclerosis, hemolytic uremic syndrome, or exposure to drugs, such as lithium. Furthermore, NGS analysis did not find mutations of UMOD, TCF2, HNF1β or other previously reported genes associated with hereditary GCKD.

Gene analysis confirmed PKD1 mutation, although the patient had no positive family history of PKD. About 10–25% patients with ADPKD have no positive family history [19]. PKD1 is highly polymorphic and the type of the PKD1 mutation is associated with the age of ESRD onset and disease severity, suggesting an allelic influence on ADPKD phenotype. Truncating mutations of PKD1 and in-frame insertions/deletions are often associated with early onset and rapidly progression, while missense mutations generally with milder disease [20, 21]. Deletion of exons, which belongs to large re-arrangement, is not very common in PKD1 mutations. About 4% of Consortium for Radiologic Imaging Study of PKD (CRISP) population was reported to have large re-arrangement [22, 23]. In addition, deletion of Exon 3 had been previously demonstrated in a Japanese ADPKD cohort [12].

Because TBMN occurs up to 5% in population [24], it is not uncommon that TBMN is recognized superimposed with other kidney diseases, such as IgA nephropathy, focal segmental glomerulosclerosis (FSGS), pauci-immune crescentic glomerulonephritis, mesangioproliferative glomerulonephritis, acute interstitial nephritis, lupus nephritis, and acute endocapillary glomerulonephritis [10]. But there was only one case reported that TBMN was superimposed with GCK in the literature. Recently, Hashimoto and his colleagues reported a case of TBMN accompanied by sporadic GCKD without mutation of COL4A3, COL4A4, UMOD, MUC1, and SEC61A1. However, in the case described by Hashimoto et al., the authors did not analyze whether the patient had pathological mutations in PKD1, PKD2 or PKHD1 [25].

Although renal cysts were easily identified on imaging in our case, the number of renal cysts was under the age-related ultrasound Ravine criteria of ADPKD [11]: the presence of four (two or more cysts in each kidney) for individuals aged 40–59 years with positive family history for cystic kidney diseases. There are no established imaging-based criteria for diagnosis of ADPKD in patients without a positive family history. A study showed that individuals who had 10 or more cysts in each kidney could be diagnosed ADPKD by imaging studies [26]. Ultrasound can detect the cysts with a diameter of 10 mm or greater, while MRI can detect cysts of 2–3 mm. After genetic test, we confirmed more cysts on both kidneys by MRI. Thus, MRI is more useful in diagnosis of polycystic kidney disease [27, 28].

ADPKD is a systemic disease, usually has extrarenal cysts in the liver or pancreas. And other extrarenal manifestations of ADPKD include hypertension, abdominal pain, cardiac valvular disease, cerebral aneurysms, and intestinal diverticulosis [29]. In this patient, we did not find any extrarenal cysts or manifestations. Cases of polycystic kidney diseases resembling GCK in neonates and children have been reported. In those cases, cysts of liver or other organs were not identified either [30, 31]. GCK in PKD usually occurs from early childhood, and we seldom encounter adult GCK in PKD, making it difficult to diagnose in the present case. Therefore, genetic tests were necessary in suspicious case of GCK.

Cysts in PKD originate in renal tubules or glomeruli, and are thought to occur due to enhanced proliferation of the epithelial cells lining the cysts [1]. In addition, the lack of tubular cysts in this case is not consistent with the typical histopathological features of ADPKD [7]. The immunostaining showed that dilatation of Bowman’s capsule was not tubule-derived, and the ultrastructure of Bowman’s capsule and PECs appeared normal by TEM in this case. But selective dilatation of the Bowman capsule still remains largely unexplained. Other cases reported that the stenosis at the glomerulotubular junction increased pressure of Bowman’s space, and remodeling of the basement membrane of the Bowman’s capsule might be the cause of glomerular cysts [32,33,34].

Heterozygous missense mutation of NPHP1 was also detected in this case. But this heterozygous mutation is not pathogenic because homozygous or compound heterozygous defect of NPHP1 can cause Nephronophthisis, which is transmitted through an autosomal recessive inheritance pattern [35].

In conclusion, we report a case of atypical ADPKD presenting as GCK accompanied by TBMN in an adult man. GCK is a rare disease and often overlooked. It is important for practicing nephrologists to have a clear understanding of GCK. Moreover, GCK involves in various conditions, and gene test should be considered.

Table 2 Summary of the pathogenic mutations
Full size table

Data availability

The authors confirm that the data supporting the findings of this study are available with the article or from the corresponding author on reasonable request. The datasets generated during the current study are available in online repository, The names of the repository/repositories and accession number can be found below: https://www.ncbi.nlm.nih.gov/sra/PRJNA1251727.

References

  1. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359(14):1477–85.

    Article  CAS  PubMed  Google Scholar 

  2. Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y. Prevalence estimates of polycystic kidney and liver disease by population sequencing. J Am Soc Nephrol. 2018;29(10):2593–600.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Cornec-Le Gall E, Torres VE, Harris PC. Genetic complexity of autosomal dominant polycystic kidney and liver diseases. J Am Soc Nephrol. 2018;29(1):13–23.

    Article  PubMed  Google Scholar 

  4. Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, et al. Polycystic kidney disease without an apparent family history. J Am Soc Nephrol. 2017;28(9):2768–76.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Bernstein J. Glomerulocystic kidney disease–nosological considerations. Pediatr Nephrol. 1993;7(4):464–70.

    Article  CAS  PubMed  Google Scholar 

  6. Bernstein J, Landing BH. Glomerulocystic kidney diseases. Prog Clin Biol Res. 1989;305:27–43.

    CAS  PubMed  Google Scholar 

  7. Lennerz JK, Spence DC, Iskandar SS, Dehner LP, Liapis H. Glomerulocystic kidney: one hundred-year perspective. Arch Pathol Lab Med. 2010;134(4):583–605.

    Article  CAS  PubMed  Google Scholar 

  8. Foster K, Markowitz GS, D’Agati VD. Pathology of thin basement membrane nephropathy. Semin Nephrol. 2005;25(3):149–58.

    Article  PubMed  Google Scholar 

  9. Haas M. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. Arch Pathol Lab Med. 2009;133(2):224–32.

    Article  PubMed  Google Scholar 

  10. Qazi RA, Bastani B. Co-existence of thin basement membrane nephropathy with other glomerular pathologies; a single center experience. J Nephropathol. 2015;4(2):43–7.

    PubMed  PubMed Central  Google Scholar 

  11. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994;343(8901):824–7.

    Article  CAS  PubMed  Google Scholar 

  12. Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K et al. Technical evaluation: identification of pathogenic mutations in pkd1 and pkd2 in patients with autosomal dominant polycystic kidney disease by next-generation sequencing and use of a comprehensive new classification system. PLoS One. 2016;11(11):e0166288.

  13. Fogo AB, Lusco MA, Najafian B, Alpers CE. AJKD atlas of renal pathology: thin basement membrane lesion. Am J Kidney Dis. 2016;68(4):e17–8.

    Article  PubMed  Google Scholar 

  14. Fogo AB, Kashgarian M. Diagnostic atlas of renal pathology, 3rd edition. edn. Philadelphia, PA: Elsevier. 2017.

  15. Churg J, Sobin LH. Renal disease: classification and atlas of glomerular diseases. 1st ed. New York: Igaku-Shoin;: Tokyo; 1982.

    Google Scholar 

  16. Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, et al. Mutations in theCOL4A4 and COL4A3 genes cause Familial benign hematuria. J Am Soc Nephrol. 2002;13(5):1248–54.

    Article  CAS  PubMed  Google Scholar 

  17. Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int. 2001;60(2):480–3.

    Article  CAS  PubMed  Google Scholar 

  18. Meleg-Smith S, Magliato S, Cheles M, Garola RE, Kashtan CE. X-linked Alport syndrome in females. Hum Pathol. 1998;29(4):404–8.

    Article  CAS  PubMed  Google Scholar 

  19. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393(10174):919–35.

    Article  PubMed  Google Scholar 

  20. Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet. 2001;68(1):46–63.

    Article  CAS  PubMed  Google Scholar 

  21. Cornec-Le Gall E, Audrezet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24(6):1006–13.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18(7):2143–60.

    Article  CAS  PubMed  Google Scholar 

  23. Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008;74(11):1468–79.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Dische FE, Anderson VE, Keane SJ, Taube D, Bewick M, Parsons V. Incidence of thin membrane nephropathy: morphometric investigation of a population sample. J Clin Pathol. 1990;43(6):457–60.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Hashimoto H, Ohashi N, Tsuji N, Naito Y, Isobe S, Fujikura T, Tsuji T, Kato A, Nozu K, Iijima K, et al. A case report of thin basement membrane nephropathy accompanied by sporadic glomerulocystic kidney disease. BMC Nephrol. 2019;20(1):248.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Pei Y, Hwang YH, Conklin J, Sundsbak JL, Heyer CM, Chan W, Wang K, He N, Rattansingh A, Atri M, et al. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2015;26(3):746–53.

    Article  CAS  PubMed  Google Scholar 

  27. Odedra D, Sabongui S, Khalili K, Schieda N, Pei Y, Krishna S. Autosomal dominant polycystic kidney disease: role of imaging in diagnosis and management. Radiographics. 2023;43(1):e220126.

    Article  PubMed  Google Scholar 

  28. Oliva MR, Hsing J, Rybicki FJ, Fennessy F, Mortele KJ, Ros PR. Glomerulocystic kidney disease: MRI findings. Abdom Imaging. 2003;28(6):889–92.

    Article  CAS  PubMed  Google Scholar 

  29. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993;329(5):332–42.

    Article  CAS  PubMed  Google Scholar 

  30. Proesmans W, Van Damme B, Casaer P, Marchal G. Autosomal dominant polycystic kidney disease in the neonatal period: association with a cerebral arteriovenous malformation. Pediatrics. 1982;70(6):971–5.

    Article  CAS  PubMed  Google Scholar 

  31. Joshi VV, Kasznica J. Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature. Pediatr Pathol. 1984;2(2):171–86.

    Article  CAS  PubMed  Google Scholar 

  32. Liu JS, Ishikawa I, Saito Y, Nakazawa T, Tomosugi N, Ishikawa Y. Digital glomerular reconstruction in a patient with a sporadic adult form of glomerulocystic kidney disease. Am J Kidney Dis. 2000;35(2):216–20.

    Article  CAS  PubMed  Google Scholar 

  33. Krous HF, Richie JP, Sellers B. Glomerulocystic kidney. A hypothesis of origin and pathogenesis. Arch Pathol Lab Med. 1977;101(9):462–3.

    CAS  PubMed  Google Scholar 

  34. Pardo-Mindan FJ, Pablo CL, Vazquez JJ. Morphogenesis of glomerular cysts in renal dysplasia. Nephron. 1978;21(3):155–60.

    Article  CAS  PubMed  Google Scholar 

  35. Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Nephronophthisis: a pathological and genetic perspective. Pediatr Nephrol. 2024;39(7):1977–2000.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

None.

Funding

The authors have no relevant financial interests to disclose.

Author information

Authors and Affiliations

  1. Division of Nephrology, Shanghai Ninth People’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, 200011, China

    Wenji Wang, Lin Chen, Feng Ding & Xuezhu Li

Authors
  1. Wenji Wang
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Lin Chen
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. Feng Ding
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. Xuezhu Li
    View author publications

    You can also search for this author inPubMed Google Scholar

Contributions

W.W. and L.C. prepared clinical data and figures, F.D. and X.L. wrote the main manuscript text. All authors reviewed the manuscript.

Corresponding author

Correspondence to Xuezhu Li.

Ethics declarations

Ethics approval and consent to participate

This study was approved by the Ethics Committee of Shanghai Ninth People’s Hospital Affiliated Shanghai Jiaotong University School of Medicine, the reference number is SH9H-2025-T129-1. The study adhered to the Declaration of Helsinki. Written informed consent were obtained from patient for ethics approval and consent to participate.

Consent for publication

Written informed consent were obtained from the patient and all family members for publication of this case report and any accompanying images.

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

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://creativecommons.org/licenses/by-nc-nd/4.0/.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Wang, W., Chen, L., Ding, F. et al. A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy. BMC Nephrol 26, 242 (2025). https://doiorg.publicaciones.saludcastillayleon.es/10.1186/s12882-025-04170-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doiorg.publicaciones.saludcastillayleon.es/10.1186/s12882-025-04170-8

Keywords

BMC Nephrology

ISSN: 1471-2369

Contact us