Craniofacial and dental findings in cystinosis

Bassim, CW; Gautam, Pawan; Domingo, DL; Balog, JZ; Guadagnini, J.P.; Gahl, W. A.; Hart, TC

doi:10.1111/j.1601-0825.2010.01662.x

Cited by 15 publications

(13 citation statements)

References 36 publications

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“…One patient had corneal lesions related to herpes simplex infection after renal transplantation, one developed glaucoma, and two developed retinopathy. Likewise, most patients had enamel defects and other dental abnormalities, as previously reported [22]. Despite all having been routinely followed by a dentist, a detailed description of their oral and dental abnormalities was not available.…”

Section: Methodsmentioning

confidence: 78%

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

et al. 2010

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Nephropathic cystinosis (NC) is a severe disease that is complicated by early-onset chronic renal failure (CRF) and other complications related to cystine deposition in tissue. Since the 1980s, the prognosis of NC has dramatically improved after the introduction of cysteamine treatment. Limited data are available documenting improvement in prognosis. We reviewed our long-term data (follow-up 6.3-27.8 years) on 23 patients followed in the past 26 years. Overall, stage III CRF was reached at 10 years of age in >90% of patients, whereas >80% reached end-stage renal disease before the age of 14 years. Three patients died during the follow-up. Our analysis shows a clear improvement in renal outcome (p = 0.001) and linear growth (p = 0.04) in patients treated more recently. Improvement in the evolution of renal function was significantly associated with early initiation of cysteamine (p = 0.006), with the dose of cysteamine (p = 0.04), and with the use of angiotensin-converting enzyme inhibitors (p = 0.01). Nonrenal long-term complications are similar to previously reported data. Of note, 3/23 patients developed rare forms of primary tumors that were successfully treated. In conclusion, our experience shows a significant improvement in the renal and nonrenal complications of cystinosis over the past decades and highlights the importance of early diagnosis in order to initiate cysteamine as soon as possible.

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Section: Methodsmentioning

confidence: 78%

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

et al. 2010

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“…In both cases presented here, the enamel hypoplasia was the result of a mineral imbalance caused by accumulation of cysteine in the kidneys. This leads the patient to have infantile NC during the phase of tooth formation and mineralisation …”

Section: Discussionmentioning

confidence: 99%

“…This leads the patient to have infantile NC during the phase of tooth formation and mineralisation. 13 It is believed that there is a decreased intestinal absorption of calcium in patients with INC because the kidneys cannot convert vitamin D into its active form, causing retention of phosphate and decreasing the serum levels of calcium. In this sense, there is a direct effect on the transport of minerals due to hypocalcemia and high serum levels of phosphate and fluoride, leading to the impairment of enamel formation.…”

Section: Discussionmentioning

confidence: 99%

“…Oral alterations in individuals with NC may be associated with the presence of comorbidities. Enamel hypoplasia, taurodontism, delayed tooth eruption, delayed tooth development, reduced airway space, soft tissue changes, tooth agenesis, and difficulty swallowing have already been described in patients with NC (Table ) . Without appropriate treatment, children with cystinosis can develop kidney failure.…”

Section: Introductionmentioning

confidence: 98%

“…Enamel hypoplasia, taurodontism, delayed tooth eruption, delayed tooth development, reduced airway space, soft tissue changes, tooth agenesis, and difficulty swallowing have already been described in patients with NC (Table 1). [10][11][12][13][14][15][16] Without appropriate treatment, children with cystinosis can develop kidney failure. The pathophysiological alterations associated with kidney failure and its treatment can affect the development and the mineralization of teeth, such as enamel hypoplasia and has been associated with the production of poorly formed enamel as a result of ameloblast disruption.…”

Section: Introductionmentioning

confidence: 99%

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Oral alterations in patients with cystinosis

Tuma

Ordóñez-Aguilera

Rodriguez

et al. 2019

Special Care in Dentistry

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Cystinosis is a rare autosomal recessive lysosomal storage disorder, which leads to abnormal accumulation of cysteine in various organs, including progressive dysfunction of kidneys. The most severe and frequent form, affecting ∼95% of patients, is termed infantile nephropathic cystinosis (NC) (OMIM 219800). We have reported oral findings in two patients with NC and described esthetic and functional rehabilitation in one of them. The first case describes a 16‐year‐old male patient, who was diagnosed with NC when he was 1‐year‐old. The patient exhibited generalized enamel hypoplasia, grade 1 drug‐induced gingival overgrowth, caries lesion in molar tooth and supernumerary tooth (ie, distomolar). The second case describes a 14‐year‐old male patient diagnosed with NC at 3 years old. Clinical examination revealed generalized enamel hypoplasia and grade 1 drug‐induced gingival overgrowth. Radiographic examination showed supernumerary tooth (mesiodens). The treatment included gingivoplasty and restoration with direct composite resin. The severity of hypoplasia highlights the importance of a dental rehabilitation treatment, as proposed here. Direct restoration with composite resin allowed harmony, function, and esthetics to be restored, in addition to being a rapid and low‐cost technique.

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Assessment of Root Position and Morphology by Cone Beam Computed Tomography

Nervina

Kapila

2014

Cone Beam Computed Tomography in Orthodontics: Indications, Insights, and Innovations

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Craniofacial and dental findings in cystinosis

Cited by 15 publications

References 36 publications

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

Oral alterations in patients with cystinosis

Assessment of Root Position and Morphology by Cone Beam Computed Tomography

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