Oral manifestations of renal tubular acidosis associated with secondary rickets: case report / Manifestações bucais da acidose tubular renal associada ao raquitismo secundário: relato de caso

ABSTRACT This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electrolyte changes during RTA or genetic mutations that trigger RTA may be responsible for impaired amelogenesis, dental malocclusion, impacted teeth, and absent lamina dura. This report reinforces the possibility of an association between RTA and the oral manifestations described.

RESUMO Este relato de caso descreve as manifestações bucais da acidose tubular renal (ATR) associada ao raquitismo secundário e discute a plausibilidade biológica desses achados. As alterações eletrolíticas características da ATR ou as mutações genéticas que a desencadeiam podem ser responsáveis pela amelogênese imperfeita, maloclusão dentária, dentes impactados e ausência de lâmina dura. Este relato reforça a possibilidade de uma associação entre ATR e as manifestações bucais descritas.

Vitamin D deficiency rickets in infants presenting with hypocalcaemic convulsions / Raquitismo por deficiencia de vitamina D en lactantes que presentan convulsiones por hipocalcemia

AIM: Hypocalcaemia evaluation of the clinical, biochemical and radiological features of 91 infants with rickets who presented as hypocalcaemic convulsions. SUBJECTS AND METHODS: Ninety-one hypocalcaemic infants who were brought to hospital with convulsion and diag-nosed with rickets related to vitamin D deficiency according to their clinical, biochemical and radio-logical features were retrospectively reviewed. RESULTS: Mean values of the laboratory data were as follows: calcium 5.55 ± 0.79 mg/dL, phosphorus 4.77 ± 1.66 mg/dL, alkaline phosphatase 1525.5 ± 925.4 U/L and parathormone 256.8 ± 158.3 pg/mL. Serum 25-OH vitamin D levels were below normal (< 20 ng/mL) in 37 infants. CONCLUSION: Vitamin D deficiency should be considered in infants presenting with hypocalcaemia. To avoid complications such as convulsions, clinicians should give vitamin D supplementation to such infants.

OBJETIVO: Evaluación hipocalcémica de los aspectos clínicos, bioquímicos y radiológicos de 91 lactantes con raquitismo, que presentaron convulsiones por hipocalcemia. PACIENTES Y MÉTODOS: Noventa y un lactantes hipocalcémicos llevados al hospital con convulsiones y a quienes se les diagnosticó raquitismo asociado a la deficiencia de vitamina D de acuerdo con sus características, bioquímicas y radiológicas, fueron revisados retrospectivamente. RESULTADOS: Los valores medios de los datos de laboratorio fueron los siguientes: calcio 5.55 ± 0.79 mg/dL, fósforo 4.77 ± 1.66 mg/dL, fosfatasa alcalina 1525.5 ± 925.4 U/L, y paratohormona 256.8± 158.3 pg/mL. Los niveles séricos de la vitamina 25 (OH) D estuvieron por debajo de lo normal en 37 lactantes (< 20 ng/mL). CONCLUSIÓN: La deficiencia de vitamina D debe considerarse en los infantes que se presentan con hipocalcemia. A fin de evitar complicaciones tales como convulsiones, se les debe dar suplementos de vitamina D.

Nutritional rickets: correlation between clinical, biochemical and radiological profile

To determine the correlation between clinical manifestations, biochemical and radiological profile in children with nutritional rickets. This is a cross-sectional study conducted at paediatric ward of a private sector health facility, Kutyana Memon Hospital Kharadar Karachi. A total of hundred patients aged 2 to 36 months with clinical suspicion of nutritional rickets were included in the study. A detailed history and examination was done and relevant investigations including serum calcium, phosphate, alkaline phosphatase and X-ray wrist joints were done to confirm the diagnosis. Data was analyzed and presented as percentages and frequencies. There were 63% males and 37% females. Majority of children were between 6 to 18 months of age, [49%] followed by 2-6 months [44%] and 18 to 36 months [07%]. Rachitic rosary was the most frequent clinical feature observed in 87% followed by widening of wrist joints in 76% cases. Serum calcium was low in 90% cases and serum alkaline phosphatase was increased in all patients. Serum phosphate was either low or normal in 44% cases each. Radiological findings were suggestive of rickets in 54% cases. Clinical and Biochemical markers are reliable indicators for diagnosis of nutritional rickets, which is more frequent between 2 to 18 months of age

Rickets in children below 2 years

Although breast-feeding is highly appraised and widely practiced in Iraq, human milk supplies all necessary nutrients except a few including vitamin D. Despite abundance of sunshine, vitamin D deficiency rickets is not rare in Iraq. We carried out this study with an objective to determine presence, presentation and predisposing factors of rickets in pediatric patients attending Al Kadymia Teaching HospitAl Baghdad. This study was conducted in Department of pediatrics, AL Kahdymia Teaching Hospital over one year period from first of October 2008 to first of October 2009. Children from newborns to twenty fourth months of age presenting with signs and symptoms of rickets were included and information regarding signs, symptoms predisposing factors [crowded housing, isolated housing with deficient sun exposure, abundant sun but lack of awareness, malnutrition and antenatal factors] and investigations was recorded on a proforma. Diagnosis was based on clinical signs, radiological changes on x-ray of wrist joint and biochemical disturbances in serum levels of alkaline phosphatase, calcium and inorganic phosphorus. Sixty children with rickets reported during the study period. Overall, 40 infants [66.6%] were exclusively on breast feeding. The main clinical presentation was in the form of recurrent lower respiratory tract infection 30 infants [50%], recurrent diarrhea and delayed milestones 20 [33.3%] and seizure 6 patients [10%]. Skeletal changes on clinical examination were present in 30 [50%]. Radiological signs of rickets were present in 50 [83.3%]. Symptoms and signs reverted to normal in all cases after vitamin D supplementation. Nutritional rickets is still prevalent in Iraq, presenting with variable signs and symptoms, predisposing the childhood population to different illnesses and skeletal deformities. In the presence of abundant sunshine, lack of awareness of exposure to sun, may be the important predisposing factors for development of nutritional rickets

Perception and knowledge of mothers on causes and treatment of rickets associated knee deformity in Ile-Ife, Osun State, Nigeria

This descriptive cross-sectional community-based study was carried out in Ile-Ife; Nigeria to assess the knowledge of mother's on the aetiology of rickets associated knee deformities and the cultural perception of its treatment. Data collection was done using interviewer based semi structured questionnaires. A total of 464 questionnaires were administered with a response rate of 86.9. Over half (59.8; N=241) and 36.5(147) of the mothers were aware of children with knee deformity and rickets; respectively. Ninety-one (22.6) mothers had the correct knowledge and perception of the true meaning of rickets. Rickets associated knee deformity aetiology was wrongly perceived to be mainly hereditary (53.8); cancer (50.9) and bone infection (48.1). Very low proportions of mothers had correct knowledge on the causes of rickets such as inadequate exposure to sunshine (21.3) or inadequate intake of calcium (21.1). The knowledge of aetiology of rickets was influenced by education (P0.02); skilled occupation (P0.0001) and the previous birth of a child with knee deformity from rickets (P0.001). The mother's cultural perceptions of treatment for childhood rickets associated knee deformities was significantly affected by age (P0.001); education; (P0.001); skilled occupation (P0.000); history of knee deformity (P0.04) and mothers with children diagnosed to have knee deformity (P0.004). Lack of finance; poor compliance to treatment; too long treatment periods; lack of information on where to seek for treatment and unaffordable treatment were among the important factors affecting completeness of treatment of knee deformity due to rickets. In conclusion; the awareness of mothers about rickets in Nigeria is still very low. It is a major reason for late presentation or complete failure to seek for adequate treatment of the knee deformity due to rickets. Increase and sustain public health enlightenment programmes are necessary for prevention. Health policy should incorporate free surgical fees for the established knee deformity to encourage community participation in the management of the condition

Congenital glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus

Congenital Glucose Galactose malabsorption [CGGM] is a rare disorder with limited data from the Arab world. We report the first case of CGGM in Oman. B.S.A two years old female who presented with chronic osmotic diarrhea since birth with hypernatraemic dehydration. B.S was found to have Glucose Galactose Malabsorption based on clinical trial of ORS and elemental formula. Symptoms resolved on introduction of Carbohydrate free formula. The patient developed many complications while on TPN including rickets and nephrogenic diabetes insipidus. These complications have not been reported earlier in CGGM

Acidose tubular renal em pediatria: [revisão] / Renal tubular acidosis in pediatrics: [review]

O termo Acidose Tubular Renal (ATR) engloba diversas afecções caracterizadas por acidose metabólica secundária a um defeito na reabsorção tubular renal de HCO 3- e/ou na excreção urinária de H+, enquanto a função glomerular é nada ou minimamente afetada. Todas as formas de ATR apresentamacidose metabólica hiperclorêmica, com intervalo aniônico normal. São doenças crônicas com impacto significativo na qualidade de vida dos pacientesquando não tratadas adequadamente, podendo evoluir com déficit do crescimento, osteoporose, raquitismo, nefrolitíase e até perda da função renal.Podem ser primárias, decorrentes de defeitos genéticos nos mecanismos de transporte dos túbulos renais, ou secundárias a doenças sistêmicas ou aoefeito adverso de medicamentos. Neste artigo, é feita uma breve revisão da homeostase ácido-básica pelo rim, discutindo-se, a seguir, aspectos dafisiopatologia, diagnóstico e abordagem das acidoses tubulares renais em pediatria.

The term Renal Tubular Acidosis (RTA) defines many disorders characterized by metabolic acidosis, secondary to defects in renal tubular reabsorption ofHCO3 - and/or in urinary excretion of H+, while glomerular function is little or not affected. All forms of RTA present hyperchloremic metabolic acidosis, witha normal anion gap. When not adequately treated, these chronic diseases can have a significant impact on the quality of life of affected patients, and can evolve into growth failure, osteoporosis, rickets, nephrolithiasis and even renal insufficiency. These disorders can be primary, originating from genetic defectson tubular transport mechanisms, or can be secondary to systemic diseases and to adverse drug reactions. In this article, the mechanisms of acid-baseregulation by the kidney are briefly reviewed, followed by a presentation of the latest evidence regarding physiopathology, diagnosis and management ofrenal tubular acidosis in pediatric patients.

Vitamin D deficiency: a global perspective / Deficiência de vitamina D: uma perspectiva global

Vitamin D is essential for the maintenance of good health. Its sources can be skin production and diet intake. Most humans depend on sunlight exposure (UVB 290­315 nm) to satisfy their requirements for vitamin D. Solar ultraviolet B photons are absorbed by the skin, leading to transformation of 7-dehydrocholesterol into vitamin D3 (cholecalciferol). Season, latitude, time of day, skin pigmentation, aging, sunscreen use, all influence the cutaneous production of vitamin D3. Vitamin D deficiency not only causes rickets among children but also precipitates and exacerbates osteoporosis among adults and causes the painful bone disease osteomalacia. Vitamin D deficiency has been associated with increased risk for other morbidities such as cardiovascular disease, type 1 and type 2 diabetes mellitus and cancer, especially of the colon and prostate. The prevalence of hypovitaminosis D is considerable even in low latitudes and should be taken into account in the evaluation of postmenopausal and male osteoporosis. Although severe vitamin D deficiency leading to rickets or osteomalacia is rare in Brazil, there is accumulating evidence of the frequent occurrence of subclinical vitamin D deficiency, especially in elderly people.

A vitamina D é essencial para a manutenção da saúde. A sua fonte principal é a pele ou pode ser ingerida com a dieta. A maioria dos seres humanos depende da exposição solar para adquirir quantidades suficientes de vitamina D. A radiação ultravioleta tipo B transforma o 7-dehidrocolesterol em vitamina D3 (colecalciferol). A época do ano, latitude, pigmentação da pele, idade e uso de filtros solares são fatores que influenciam a produção cutânea. Deficiência de vitamina D pode causar raquitismo e osteomalacia, exacerbar a perda óssea na osteoporose, como também pode associar-se a várias morbidades como doenças cardiovasculares, diabetes mellitus tipo 1 e 2, câncer de próstata e de intestino grosso. A prevalência de hipovitaminose D tem sido relatada com grande freqüência mesmo em regiões de baixa latitude e deve ser considerada na avaliação da osteoporose. Embora a deficiência severa levando a osteomalacia possa ser vista raramente no Brasil, evidências se acumulam da freqüente ocorrência de deficiência subclínica, especialmente em idosos.

Epidermolytic hyperkeratosis with rickets.

A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has been reported in children with various types of ichthyosis like lamellar and X-linked types. We report this case of epidermolytic hyperkeratosis with rickets for its rarity.

Hypocalcemia and nutritional rickets in children: common etiological factors

Hypocalcemia can be defined as a state when serum calcium level is less than 7 mg/dl in preterm neonates and less than 8 mg/dl in term neonates and less than 8.5 mg/dl in older children. Nutritional rickets is commonly associated with rickets in children. To determine the common etiological factors of hypocalcemia and nutritional rickets in children. Cross sectional analytical study. This study was conducted in the department of Pediatrics, King Edward Medical University/Mayo hospital Lahore from March 1998 to January 2001. 120 patients [2 months to 60 months] who presented with tetany, clinical and skeletal manifestations of rickets and seizures were included in the study. Biochemical profile [serum calcium, phosphate and alkaline phosphatase] and radiographs of wrist joint were done. Each child was accessed for age, sex, feeding pattern, exposure to sunlight, number of children in family, maternal age, educational sta tus of mothers, presenting features of the disease, total calcium, phosphate and alkaline phosphatase level in the serum and X-ray wrist. The study group comprised of 120 children [72 boys and 48 girls] ranging from 2 months to 3.5 years. 65% of the children had weight below 5th centile on National Center for Health Statistics charts. 32% of children got sunlight exposure for less than 30 minutes/week and 16% got it for 30-120 minutes/week. Out of total 120, 110 were below 2years among these 110, 9% were exclusive breast fed, 35% got diluted fresh milk, 1% got formula milk and 13% got both breast and bottle feeding. In 45% children weaning was not started. 47.5% couples had 2 or more children. 72% mothers were below 30 years of age, at the time of interview. 31% of the mothers were uneducated. 85% children had seizures at the time of presentation. Out of these 24.51% had upper respiratory tract infection and 51.96% had lower respiratory tract infection 79% had clinical signs of florid rickets. 67.5% of patients were had serum calcium between 6 and 7mg/dl, 69% were had serum phosphate level < 4 mg/dl and 76% had alkaline phosphatase level >1000IU/L. Hypocalcemia represents a major health problem in Pakistani children. Infants under 2 years of age are liable to have vitamin D deficiency rickets particularly if they are exclusively breastfed or received fresh milk with reduced exposure to sunlight. The higher the level of education of mothers, the less likely is the chance that their children become rachitic. Hypocalcemia can present with a wide variety of symptoms, the most important of which are seizures and recurrent chest infections. Rickets must be looked for as an underlying cause of these complaints

Wilson's disease--unusual features.

Two cases of Wilson's disease with unusual features are reported. In one case neurological abnormality was the presenting feature without any clinical involvement of the liver. In the other case, neurologic manifestations were associated with rickets and cholelithiasis, a result of chronic hemolytic state. Apart from clinical profile both the cases were diagnosed by grossly reduced serum ceruloplasmin level. However, Kayser-Fleischer rings were found in each case.

Pseudohypoparathyroidism presenting with bony deformities resembling rickets.

Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin D. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.

Infantile cystinosis.

Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement.

Raquitismo e osteomalacia / Rickets and osteomalacia

Raquitismo e osteomalacia são defeitos da mineralização óssea. O raquitismo é caracterizado por anormalidades na formação na placa epifisária de crescimento, com áreas não mineralizados, desorganização da arquitetura celular e retardo na maturação óssea. A osteomalacia é caracterizada pela deficiente mineralização da matriz osteóide do osso cortical e trabecular com acúmulo do tecido osteóide pouco mineralizado. São processos que, em geral, ocorrem associados. Após o final do crescimento, com o fechamento da cartilagem epifisária, apenas a osteomalacia permanece. A folha do processo de mineralização tem como uma das principais causas a inadequada concentração extracelular de cálcio e fósforo, os dois principais componentes minerais do osso, e a falta ou comprometimento da ação dos elementos responsáveis pela sua absorção, principalmente a vitamina D. As principais manifestações clínicas como as deformidades ósseas e o atraso no crescimento, são semelhantes nos diferentes tipos de raquitismo e osteomalacia existem características que são específicas. As causas são adquiridas ou hereditárias e os recentes avanços em biologia molecular permitem a identificação dos genes envolvidos e das mutações. Essa discussão inclui os principais tipos da patologia.