# Ask‐Upmark Kidney Disease: Case Report of a Rare Congenital Malformation

**Authors:** Raiane Machado Maia, Guilherme Alves Andrade, Heitor Lino Guimarães, Flávio Ricardo Manzi, Luís Cândido Pinto da Silva, Izabella Lucas de Abreu Lima

PMC · DOI: 10.1155/crip/5533202 · Case Reports in Pathology · 2026-02-20

## TL;DR

This case report describes a 14-year-old boy with Ask-Upmark kidney disease and related oral health issues requiring dental care.

## Contribution

The paper presents a rare case linking Ask-Upmark kidney disease with oral manifestations and dental management strategies.

## Key findings

- Ask-Upmark kidney disease can lead to drug-induced gingival hyperplasia and eruption disturbances.
- Multidisciplinary care, including dental treatment, is essential for improving quality of life in these patients.

## Abstract

Ask‐Upmark kidney disease is a congenital renal malformation characterized by segmental hypoplasia, leading to progressive impairment of renal function and severe hypertension. It is a rare anomaly that presents with various complications. A 14‐year‐old boy diagnosed with Ask‐Upmark kidney was referred for dental care. The patient presented with mouth breathing, unsatisfactory occlusion, and severe drug‐induced gingival hyperplasia, which hindered speech, diet, and oral hygiene. Imaging revealed the presence of all permanent teeth, but with delayed eruption, oblique eruption pathways, and risk of impaction. Management included oral hygiene instructions, prophylaxis, and ulectomy to facilitate tooth eruption. This case highlights the oral manifestations associated with the management of Ask‐Upmark kidney, specifically drug‐induced gingival enlargement and eruption disturbances. It underscores the necessity of multidisciplinary treatment, including dentistry, to improve the quality of life for these patients.

## Full-text entities

- **Genes:** ARSK (arylsulfatase family member K) [NCBI Gene 153642] {aka MPS10, TSULF}
- **Diseases:** CVA (MESH:D020521), tooth eruption (MESH:D014079), dry mouth (MESH:D014987), enamel defects (MESH:D000094602), cemento-osseous dysplasia (MESH:C537063), bleeding (MESH:D006470), depressed (MESH:D003866), Ask-Upmark Kidney Disease (MESH:D007674), mouth breather (MESH:D009059), infarcts (MESH:D007238), segmental glomerular sclerosis (MESH:D005923), impaction of (MESH:D004834), tooth wear (MESH:D057085), autosomal recessive disorder (MESH:D030342), congenital renal malformation (MESH:D006030), ischemia (MESH:D007511), enamel renal syndrome (OMIM:204690), renal segmental hypoplasia (MESH:C537538), stenosis (MESH:D003251), motor deficit (MESH:D009461), Polycystic kidney disease (MESH:D007690), hyperplasia (MESH:D006965), fever (MESH:D005334), cystic lesion (MESH:D052177), hypertension (MESH:D006973), enamel hypoplasia (MESH:D003744), oral abnormalities (MESH:D009056), gingival hyperplasia (MESH:D005885), discoloration (MESH:D014075), vesicoureteral reflux (MESH:D014718), arterial hypertension (MESH:D000081029), anterior open (MESH:D005597), dental calculus (MESH:D003728), Congenital Malformation (OMIM:163000), periodontitis (MESH:D010518), uremia (MESH:D014511), caries (MESH:D003731), dental anomalies (OMIM:614188), epilepsy (MESH:D004827), congenital anomalies (MESH:D000013), interstitial fibrosis (MESH:D005355), oral ulcers (MESH:D019226), dentigerous cyst (MESH:D003803), weight loss (MESH:D015431), gingival enlargement (MESH:D005891), deviation (MESH:D010262), bone loss (MESH:D001847), atrophy (MESH:D001284), renal vascular anomalies (MESH:C535986), mouth breathing (MESH:D009058), swelling (MESH:D004487), chronic kidney disease (MESH:D051436), infections (MESH:D007239), eruption disturbances (MESH:D003875), AMI (MESH:D009203), gingival overgrowth (MESH:D019214), renal insufficiency (MESH:D051437), calcifications (MESH:D002114), chronic renal failure (MESH:D007676)
- **Chemicals:** amlodipine (MESH:D017311), enalapril (MESH:D004656), vitamin D. (MESH:D014807), valproic acid (MESH:D014635), hydrochlorothiazide (MESH:D006852), hydralazine (MESH:D006830)
- **Species:** Canis lupus familiaris (dog, subspecies) [taxon 9615], Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC12921525/full.md

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Source: https://tomesphere.com/paper/PMC12921525