Familial Calcification of the Basal Ganglions

Moskowitz, Mark A.; Winickoff, Richard N.; Heinz, E R

doi:10.1056/nejm197107082850202

Cited by 106 publications

(80 citation statements)

References 20 publications

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“…Phosphaturic response may be inconstant, indistinguishable from diurnal variations, and frequently small [12]. On the other hand, the response manifested in 3',5'-AMP excretion, dur- ing standard experimental conditions adopted by several different laboratories, has been shown to be remarkably constant [5,9,23,30,41,44]. Moreover, the specificity of levels of 3',5'-AMP in urine, as an exact indicator of PTH action on the kidney, has been strongly supported by the demonstration that very little exogenous PTH-induced excretion of 3',5'-AMP (approximately 6% or less) is of extrarenal origin; and, during endogenous hyperparathyroidism, the nephrogenic contribution to basal 3',5'-AMP excretion has been shown to be markedly increased [23].…”

Section: Discussionmentioning

confidence: 99%

“…Fluctuations in the high basal ratios of milligrams phosphate/milligrams creatinine excretion [9] obscured a phosphaturic response to PTH, if indeed, this did occur (Table III). Thus, the increased excretion of 3',5'-AMP after PTH infusion can be interpreted as a demonstration of PTH responsiveness of the kidney in diis disease [5,9,23,30,41,44].…”

Section: 'Y-amp Excretionmentioning

confidence: 99%

“…When patients were treated, a phosphaturic response to PTH was still not evident (Table V) even though the basal ratios of milligrams phosphate/milligrams creatinine excretion decreased to normal limits. However, the appropriately increased excretion of 3', 5'-AMP after PTH infusion represents a more sensitive parameter of PTH action on the kidney [5,9,23,30,41,44].…”

Section: 'Y-amp Excretionmentioning

confidence: 99%

See 2 more Smart Citations

Vitamin D-Dependent Rickets: Actions of Parathyroid Hormone and 25-Hydroxycholecalciferol

Rosen

Finberg

1972

Pediatr Res

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ExtractDuring active rickets, the increase in 3',5'-adenosine monophosphate (3',5'-AMP) excretion after infusion of parathyroid hormone (PTH) can be claimed as a demonstration of PTH responsiveness, at least as far as the kidney is concerned (Table II). In patients with vitamin D-dependent rickets, following 25-HGC therapy, the basal excretion ratios of nanomoles 3',5'-AMP/milligrams creatinine fall within the normal range, and, although the basal ratios of milligrams phosphate/milligrams creatinine excretion decrease to normal (Tables III, IV, and V), a phosphaturic response to PTH is still not evident. The high basal ratios of nanomoles 3',5'-AMP/ milligrams creatinine and milligrams phosphate/milligrams creatinine suggest underlying hyperparathyroidism during a phase of this syndrome marked by hypocalcemia and hyperaminoaciduria. During 2-day PTH challenges, while rickets was active, the peak increases in serum calcium above base line were 1.92, 1.80, and 1.86 mg/100 ml. After treatment with 25-hydroxycholecalciferol (25-HCG), no further significant increases in serum calcium above base line could be elicited (Tables VI, VII, VIII). It would seem, therefore, that, while these patients were untreated, small but sufficient amounts of 25-HCC or another metabolite of vitamin D were available to permit the calcium-mobilizing action of PTH on bone. The observed hypocalcemia in vitamin D-dependent rickets, then, is most likely secondary to a defect in gastrointestinal absorption. Mineral balance studies during active rickets revealed an absorptive defect for calcium, phosphorus, and magnesium-a defect completely reversible after 25-HCC treatment. Speculation

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Section: Discussionmentioning

confidence: 99%

Section: 'Y-amp Excretionmentioning

confidence: 99%

Section: 'Y-amp Excretionmentioning

confidence: 99%

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Vitamin D-Dependent Rickets: Actions of Parathyroid Hormone and 25-Hydroxycholecalciferol

Rosen

Finberg

1972

Pediatr Res

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“…Dijagnostičke kriterijume za postavljanje dijagnoze modifikovali su Moskowitz et al 1971, Ellie et al 1989. i Manyam et al 2005, i podrazumevaju bilateralne kalcifikacije utvrđene neuroimidžing metodama, progresivnu neurološku i/ili psihijatrijsku disfunkciju, odsustvo biohemijskih abnormalnosti, odsustvo infektivnih, toksičnih i traumatskih uzroka bolesti i potvrđeno autozomno dominantno nasleđivanje (24)(25)(26). Kompjuterizovana tomografija ostaje najefikasnija vizualizaciona metoda, mada MR koja daje hipointenzne promene na T2W i rendgenski snimak glave takođe mogu uputiti na dijagnozu.…”

Section: Diskusijaunclassified

Occurrence of Fahr's syndrome in patient suffering from systemic lupus erythematosus: A case report

Knežević¹,

Marinkovic²,

Trikoš³

et al. 2017

Medicinski casopis

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UVOD.Fahrov sindrom je retka neurodegenerativna bolest koju je prvi put 1930. godine klinički opisao naučnik Karl Teodor Fahr (1-3). Nalazi simetričnih kalcifikacija u mozgu datiraju još iz 1855. godine (4,5). Bolest karakteriše kalcifikacija bazalnih ganglija, talamusa, nukleus dentatusa, cerebralnog korteksa, hipokampusa i subkortikalne bele mase (2,3,6,7). Kalcifikacija bazalnih ganglija vidljiva je kod oko 1% slučajeva radioloških pregleda mozga (8-10). Prevalenca bolesti verovatno je niža od 0,5% i kreće se od 0,3% do 1,2% prilikom rutinskih radioloških pretraga u ranijim izveštajima, dok raste do 20,6% u skorijim studijama (11)(12)(13)

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“…Descrevê-la-emos à luz dos critérios sugeridos por Moskowitz e col. 11 , citados por Millen em artigo recente 10 . São eles: 1) calcificações simétricas de gânglios basais, sem outras características clínicas de hipoparatireoidismo ou pseudohipoparatireoidismo; 2) níveis séricos de cálcio e fosfato normais; 3) responsividade tubular renal ao hormônio paratireóideo (P.T.H.…”

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Neurocisticercose associada a hipoparatireoidismo e doença de Fahr(?): registro de um caso

Delgado-Rodrigues

1984

Arq. Neuro-Psiquiatr.

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Calcificações cerebrais são achados radiográficos relativamente comuns, podendo estar associados a grande número de causas, dentre as quais: traumas, infecções, infestação por parasitos, anomalias congênitas, desordens metabó-licas 10 3 » 9 » 1 2 . Encontra-se aí o pomo da discórdia, com o qual há de defrontar-se todo o que busca uma definição para a chamada "doença de Fahr". Este epônimo teve sua origem no caso relatado por Fahr em 1936 \ sob o título "calcificação idiopática dos vasos cerebrais". Descreveu então um caso isolado, em adulto, de calcificação bilateral e simétrica dos gânglios basais, sem qualquer traço hereditário. Apesar disso, o epônimo foi amplamente absorvido pela literatura especializada. Passou-se então a classificar sob ele as calcificações bilaterais e simétricas de gânglios da base, acompanhadas ou não de calcificações cerebelares, fossem elas de ocorrência familiar, idiopáticas, com evidência de transmissão genética ou não. Igualmente encontram-se sugestões de que a assim chamada "doença de Fahr" seja, na verdade, um conjunto de entidades que incluiria até as desordens endócrinas mencionadas 3 > 16 . Os casos apresentados por Babbitt e col.1 sob o título "ferrocalcinose cerebrovascular idiopática familiar" nos fazem delinear uma doença de início na infância, grave, com manifestações neurológicas pronunciadas, distúrbios severos do crescimento e deterioração mental progressiva, de caráter autossômico recessivo. Tal quadro também foi observado por outros autores 9 . Entretanto, diversos relatos existem de clara identificação com a entidade citada como "doença de Fahr", nos quais

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Familial Calcification of the Basal Ganglions

Cited by 106 publications

References 20 publications

Vitamin D-Dependent Rickets: Actions of Parathyroid Hormone and 25-Hydroxycholecalciferol

Vitamin D-Dependent Rickets: Actions of Parathyroid Hormone and 25-Hydroxycholecalciferol

Occurrence of Fahr's syndrome in patient suffering from systemic lupus erythematosus: A case report

Neurocisticercose associada a hipoparatireoidismo e doença de Fahr(?): registro de um caso

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