Dental Fluorosis As a Complication of Hereditary Diabetes Insipidus

CASE REPORT Dental fluorosis as a complicationof hereditary diabetes insipidus: studies of six affected patients W. Kim Seow, BDSc, MDSc,DDSc, PhD, FRACDSM.J. Thomsett, MBBS,FRACP Abstract Hereditary diabetes insipidus is a rare endocrinedisorder causedby a deficiency of the antidiuretic hormone,vasopressin. The disease is characterizedby polyuria, extremethirst, and polydipsia. In this study of six affected membersfrom two families with hereditary diabetes insipidus, it was found that two children whodrank water fluoridated at optimumlevels developed moderateto severe fluorosis. By contrast, four other affected patients whodid not consumefluoridated water showednormal dentitions. This report indicates that dental fluorosis maybe an importantcomplication of diabetes insipidus, and demonstrates the possibility that excessive consumptionof optimally fluoridated water can lead to severe developmentalenamel defects. (Pediatr Dent 16:128-32, 1994) Introduction preprovasopressin-neurophysin II-glycoprotein com- Pituitary diabetes insipidus is an endocrine disorder plex on chromosome20, but the precise molecular de- that results from a deficiency of the antidiuretic hor- fect remains unknown.2 The disease is characterized by mone (ADH), vasopressin. 1 This hormone is synthe- a persistence of inappropriately dilute urine in the pres- sized in the supraoptic and paraventricular nuclei of ence of strong osmotic or nonosmotic stimuli to ADH the posterior pituitary (neurohypophysis), and the gran- secretion, absence of renal concentrating defects, and a ules containing the packaged neurohormones are trans- rise in urine osmolality upon administration of vaso- ported via the axons to their storage site in the neuro- pressin. 1 This disease, which usually presents before hypophysis.2 The release of vasopressin is regulated by age 1, is characterized by polyuria, extreme thirst, and a complex system that, under physiologic conditions, polydipsia. An affected infant is irritable, and is pla- controls the osmotic pressure of plasma.3 Pituitary dia- cated only with water rather than additional milk. betes insipidus may arise from pathological conditions Hyperthermia, vomiting, constipation, and enuresis of the neurohypophyseal unit. Commoncauses include may occur in childhood. Dehydration in early infancy head trauma, hemorrhage, histiocytosis, and tumors of may1 result in brain damage and mental impairment. the4 basilar surfaces of the brain. Diagnosis of hereditary diabetes insipidus usually In rare cases, diabetes insipidus is inherited, 5 usu- depends on familial history and clinical symptoms. ally in an autosomal dominant manner.6, 7 Molecular Analysis of urine osmolality and blood levels of vaso- studies have localized the defect to the pressin may also help to establish diagnosis. Treatment Table1. Dentalfluorosis in patientswith hereditary diabetes insipidus Patient Age~Sex Ageof Diagnosis" Fluoride in Drinking Teeth Teeth Showing Number (Years) (Years) Water (ppm) Present Fluorosis(Severity) 1. 38/M 35 < 0.1 7654321 I 123467 -- 754321 I 1234568 2. 12/F 9 < 0.1 7654321 I 1234567 -- 7654321 I 1234567 3. 16/F 13 1 87654321 I 12345678 all teeth 876543211 1234567 (moderate) 4. 8/F 5 < 0.1 6EDC21 I 12CDE6 -- 6EDC21 I 124E6 5. 14/F 11 < 0.1 7654321 I 1234567 -- 7654321 I 1234567 6. 8/F 5 1 6EDC21 I 12CDE6 all permanent 6EDC21 I 12CDE6 teeth(severe) ¯ Treatmentwith DDAVPwas instituted in all cases after diagnosis wasestablished. 128 Pediatric Dentistry: March/April 1994 - Volume16, Number2 (patients #2, 4, 5, Table 1) had been diagnosed three years earlier as having classical hereditary diabetes Q non-affected female insipidus. A pedigree his- affected female tory revealed an autosomal non-affected male dominant mode of inheritance (Fig 1). An affected cousin of the family (patient #3) was also available for dental examination. All the patients were products of normal pregnan- cies, and all were born full- term, and were of normal birthweight. Medical diagnosis of hereditary diabetes insipidus was made from family history, clinical symptoms, high urine osmolality in the presence of wa- Fig 1. Pedigree of family affected with hereditary diabetes insipidus, showing autosomal ter deprivation, and in- dominant inheritance. creased osmolality after treatment with DDAVP Table 2. Peak serum and urine osmolality in affected children from Family 1 (Table 2). In addition, biochemical analysis11 revealed total absence of va- Peak Serum Urine Post DDAVP sopressin in the plasma. All affected Patient Number Osmolality' Osmolality* Urine Osmolality family members had classical symp- (mOsm/L) (mOsm/L) (mOsm/L) toms of constant thirst, polydipsia, and 3 302 88 135 polyuria. Each patient had an estimated average daily consumption of approxi- 5 308 288 410 mately 8-10 L of water. Nocturnal 4 290 570 254 enuresis was also noted in patients #2 and #4. • Normal values = 275-295 mOsm/L. + In addition, patient #2 was found to Normal values after 12 hour fluid restriction: > 850 mOsm/L. have hydronephrosis and hydroureter secondary to diabetes insipidus. Ex- usually consists of administering the drug desmopressin cept for patient #3, who was treated with (DDAVP), which is a highly effective analog of vaso- bronchodilators for mild asthma, none of the remain- pressin.8-9 Because only a few families of hereditary diabetes insipidus have ever been reported in the medical litera- ture, the oral manifestations of the condition remain unclear. Apart from a 1975 case report10 that noted dental fluorosis in a family with hereditary diabetes insipidus, no other investigations are available. The aim of this investigation was to study the dental manifestations of diabetes insipidus, with special regard to dental fluorosis. Case studies Family 1 Medical history A family of five children (one male and four fe- males) was referred to the chief investigator by their endocrinologist for dental evaluation. The father (pa- Fig 2. Dentition of father from Family 1 affected with daibetes tient #1, Table 1) as well as three of his female children insipidus. There was no evidence of dental fluorosis. He had lived in a low-fluoride area during his childhood. Pediatric Dentistry: March/April 1994 - Volume 16, Number 2 129 aged 4, 8, and 10 years. They were all bottle-fed with formula since birth, and were given plain water or reconstituted fruit cordials when thirsty. There was no history of fluoride supplementation at any time. Ac- cording to the mother, since approximately age 2, the children's teeth were brushed once a day with a small amount of toothpaste. Previous restorative care was provided through a school dental service. Patient #2 (aged 12 years) presented with a full permanent dentition, except for the third molars (Table 1). The occlusion was Class I. Apart from occlusal amalgam restorations on the mandibular first permanent molars, the dentition was intact and showed no abnormalities. A panoramic radiograph showed no abnormalities. Fig 3. Normal dentition of 8-year-old female patient affected Patient #4 (aged 8 years) presented with a mixed by diabetes insipidus. She had lived in a low-fluoride area until dentition consisting of the first permanent molars, cen- age 4 years. tral and lateral incisors, the mandibular left first premolar, and the primary first and second molars and ing family members had other medical conditions. Af- canines except the mandibular left primary canine and ter diagnosis three years previously, all affected mem- first molar (Table 1, Fig 3). The occlusion was Class I. bers of the family were placed on DDAVP therapy, at a Amalgam restorations were present in the mandibular dose of 10 ug per day, administered intranasally, with left and the maxillary right first permanent molars, as good response. well as in all the remaining primary molars. All other teeth were intact and showed no abnormalities. Dental examination Patient #5 (aged 14 years) presented with a full per- Father (patient #1, Table 1). The father (aged 38 manent dentition except the third molars (Table 1). Her years) had lived in a nonfluoridated area (< 0.1 ppm) occlusion was Class I. Large amalgam restorations were throughout childhood. He had never taken fluoride noted in the mandibular first permanent molars as well supplements. He has had routine dental care previ- as in the maxillary left first permanent molar. The other ously, and his dental history was unremarkable. teeth appeared sound. On dental examination, he had a complete perma- Affected cousin of the children (patient #3, Table nent dentition except for both maxillary third molars, 2). The oldest daughter of the father's sister (Fig 1) also maxillary left second premolar, left mandibular second presented for the dental examination. Aged 16 years at molar, and right mandibular first molar (Fig 2). The the time of dental examination, she was medically di- occlusion was Class I. An isolated area of enamel hypo- agnosed at the same time as her cousins—approxi- plasia (narrow linear area of missing enamel) was noted mately three years previously. She had lived all her life on the buccal surface of the mandibular left first in a region with optimally fluoridated water supply premolar. There was no evidence of dental fluorosis. (approximately 1 ppm). Affected children (patients #2, 4, 5, Table 1). The She presented with a complete permanent dentition three female children affected with diabetes insipidus except for an unerupted left mandibular third molar spent most of their early childhood in a low-fluoride (Figs 4-6). The occlusion was Class I. The entire denti- area (< 0.1 ppm). The family moved to an optimally tion showed dental mottling, which appeared as opaque fluoridated area (1 ppm) when these children were white and cream-brown diffuse patches on the enamel Figs 4,5,6. Dentition of 16-year-old female patient affected with diabetes insipidus. The teeth showed typical features of moderate dental fluorosis. She had lived in an optimally fluoridated community throughout her entire childhood. 130 Pediatric Dentistry: March/April 1994 - Volume 16, Number 2 Figs 7,8,9. Dentition of 8-year-old female patient affected with diabetes insipidus, showing severe dental fluorosis.

Load more