Results 71 to 80 of about 2,414 (178)

Hypophosphatemic osteomalacia demonstrated by Tc-99m MDP bone scan: a case report.

, 2000
Hypophosphatemic osteomalacia, a familial or rarely acquired disorder, is characterized biochemically by hypophosphatemia, decreased renal tubular reabsorption of phosphate, decreased intestinal absorption of calcium, and normal serum calcium.
Kim, S, Chung, YS, Park, CH
core  

Tenofovir Cons the Kidneys: A Case of Acquired Fanconi

, 2018
INTRODUCTION Proximal (Type 2) renal tubular acidosis (RTA) is a relatively rare diagnosis, especially in adults. It is characterized by a reduction in proximal bicarbonate reabsorption resulting in urinary bicarbonate wasting.
Nahar, MD, Ritu, Lundsmith, MD, Emma
core   +1 more source

Familial Hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries

Familial hypocalciuric hypercalcemia (FHH) is typically a benign condition characterized by elevated serum calcium, low urinary calcium excretion, and non-suppressed circulating levels of parathyroid hormone (PTH), usually requiring no intervention.
Goldsweig, Bracha, MD
core   +1 more source

Familial hypocalciuric hypercalcemia type 1 likely secondary to a new inactivating mutation of CASR

: Familial Hypocalciuria Hypercalcemia (FHH) is an inherited disease with autosomal dominant transmission characterized by the presence of usually mild-to-moderate hypercalcemia, hypophosphatemia, hypocalciuria, and normal or moderately increased PTH ...
Sgarlato V., Ruggeri M., Notaro E., Neri L., Signorotti S., Zanchelli F., Apuzzo D., Giudicissi A., Bruno P. F., Buscaroli A.   +9 more
core   +1 more source

A Novel Mutation in the CLDN16 Gene in a Palestinian Family with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

, 2017
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal disorder characterized by excessive renal magnesium and calcium loss, bilateral nephrocalcinosis, and progressive renal failure, due to impaired ...
Bassam Abu-Libdeh, Abdulsalam Abu-Libdeh, Ulla Abdulhag   +2 more
core   +1 more source

Genetics of hypercalciuric nephrolithiasis: renal stone disease.

, 2007
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in more than 35% of patients, and may occur as a monogenic disorder, or as a polygenic trait ...
MICHAEL J. STECHMAN, Thakker, Rajesh, NELLIE Y. LOH, Loh, NY, Stechman, MJ, RAJESH V. THAKKER, Thakker, RV   +6 more
core   +1 more source

Familial vitamin D deficient osteomalacia and renal osteodystrophy: Shaping up the debate

, 2010
Osteomalacia is a common occurrence world over due to the deficiency in vitamin D and calcium intake. We present here two sisters with features of sever osteomalacia, myopathy and hypophosphatemia hyperparathryroidism and 25(OH)D2, 25(OH)D3and 1,25(OH)D3
Jabur Wael
core  

Successful treatment of genetically hypophosphatemic mice by 1 alpha-hydroxyvitamin D3 but not 1,25-dihydroxyvitamin D3.

, 1980
The X-linked hypophosphatemia (Hyp) mutation in the mouse, a model for X-linked familial hypophosphatemic rickets in man, is characterized by defective phosphate transport.
Wilson, M C, Beamer, W G, DeLuca, H F
core  

X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case. [PDF]

Acta Neurochir (Wien)
Czarnetzki C, Mollica C, Buri J, Egervari K, Schaller K, Molliqaj G, Trombetti A, Nouri A, Tessitore E.   +8 more
europepmc   +1 more source

X-linked hypophosphatemia in the presence of a <i>CLDN16</i> variant: implications for renal handling and disease severity. [PDF]

JCEM Case Rep
Jang SA, Kim KM, Rhee Y.
europepmc   +1 more source