A Bartter syndrome patient presenting with severe growth retardation: Questions

2022 ◽  
Author(s):  
Gökçen Erfidan ◽  
Demet Alaygut ◽  
Özgür Özdemir Şimşek ◽  
Seçil Arslansoyu Çamlar ◽  
Fatma Mutlubaş ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Bartter Syndrome ◽  
Syndrome Patient ◽  
Severe Growth

A Bartter syndrome patient presenting with severe growth retardation: Answers

2022 ◽  
Author(s):  
Gökçen Erfidan ◽  
Demet Alaygut ◽  
Özgür Özdemir Şimşek ◽  
Seçil Arslansoyu Çamlar ◽  
Fatma Mutlubaş ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Bartter Syndrome ◽  
Syndrome Patient ◽  
Severe Growth

scholarly journals Pathogenic role of Fgf23 in Dmp1-null mice

2008 ◽  
Vol 295 (2) ◽  
pp. E254-E261 ◽  
Author(s):  
Shiguang Liu ◽  
Jianping Zhou ◽  
Wen Tang ◽  
Rochelle Menard ◽  
Jian Q. Feng ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Matrix Protein ◽  
Serum Levels ◽  
Serum Phosphate ◽  
Hypophosphatemic Rickets ◽  
Null Mouse ◽  
Matrix Mineralization ◽  
Severe Growth ◽  
Inactivating Mutations

Autosomal recessive hypophosphatemic rickets (ARHR), which is characterized by renal phosphate wasting, aberrant regulation of 1α-hydroxylase activity, and rickets/osteomalacia, is caused by inactivating mutations of dentin matrix protein 1 ( DMP1). ARHR resembles autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH), hereditary disorders respectively caused by cleavage-resistant mutations of the phosphaturic factor FGF23 and inactivating mutations of PHEX that lead to increased production of FGF23 by osteocytes in bone. Circulating levels of FGF23 are increased in ARHR and its Dmp1-null mouse homologue. To determine the causal role of FGF23 in ARHR, we transferred Fgf23 deficient/enhanced green fluorescent protein (eGFP) reporter mice onto Dmp1-null mice to create mice lacking both Fgf23 and Dmp1. Dmp1−/− mice displayed decreased serum phosphate concentrations, inappropriately normal 1,25(OH)2D levels, severe rickets, and a diffuse form of osteomalacia in association with elevated Fgf23 serum levels and expression in osteocytes. In contrast, Fgf23−/− mice had undetectable serum Fgf23 and elevated serum phosphate and 1,25(OH)2D levels along with severe growth retardation and focal form of osteomalacia. In combined Dmp1−/−/Fgf23−/−, circulating Fgf23 levels were also undetectable, and the serum levels of phosphate and 1,25(OH)2D levels were identical to Fgf23−/− mice. Rickets and diffuse osteomalacia in Dmp1-null mice were transformed to severe growth retardation and focal osteomalacia characteristic of Fgf23-null mice. These data suggest that the regulation of extracellular matrix mineralization by DMP1 is coupled to renal phosphate handling and vitamin D metabolism through a DMP1-dependent regulation of FGF23 production by osteocytes.

scholarly journals CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

2017 ◽  
Vol 101 (3) ◽  
pp. 391-403 ◽  
Author(s):  
Christian Windpassinger ◽  
Juliette Piard ◽  
Carine Bonnard ◽  
Majid Alfadhel ◽  
Shuhui Lim ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Developmental Delays ◽  
Severe Growth

scholarly journals Cataract in Seckel Syndrome

1970 ◽  
Vol 13 (1) ◽  
pp. 12-15
Author(s):  
Vinita Girish Rao ◽  
Gunjan Abhijit Deshpande ◽  
Girish Shiva Rao ◽  
Pooja G Rehman
Keyword(s):  
Mental Retardation ◽  
Cataract Surgery ◽  
Short Stature ◽  
Growth Retardation ◽  
In Utero ◽  
Small Incision Cataract Surgery ◽  
Seckel Syndrome ◽  
Bilateral Cataract ◽  
Small Incision ◽  
Severe Growth

Seckel syndrome is an extremely rare inherited disorder characterised by severe growth retardation in utero, which continues later in life, resulting in short stature. Seckel syndrome presents as microcephaly, mental retardation, and a beak-like nose. This report describes a patient with Seckel syndrome who had bilateral cataract and underwent uneventful small incision cataract surgery in both eyes. The association of cataract with Seckel syndrome has not been described in the literature to the best of the authors’ knowledge.

Antisense repression of cytosolic phosphoglucomutase in potato ( Solanum tuberosum ) results in severe growth retardation, reduction in tuber number and altered carbon metabolism

Planta ◽  
2002 ◽  
Vol 214 (4) ◽  
pp. 510-520 ◽  
Author(s):  
Alisdair Fernie ◽  
Eva Tauberger ◽  
Ute Roessner ◽  
Lothar Willmitzer ◽  
Richard Trethewey ◽  
...  
Keyword(s):  
Solanum Tuberosum ◽  
Growth Retardation ◽  
Carbon Metabolism ◽  
Tuber Number ◽  
Severe Growth ◽  
Antisense Repression

NON-SUPPRESSIBLE INSULIN-LIKE ACTIVITY IN LARON'S SYNDROME

1979 ◽  
Vol 90 (3) ◽  
pp. 414-420 ◽  
Author(s):  
Knud W. Kastrup ◽  
Jürgen Zapf
Keyword(s):  
Growth Hormone ◽  
Growth Factors ◽  
Growth Retardation ◽  
Binding Assay ◽  
Factor Activity ◽  
Protein Binding Assay ◽  
The Family ◽  
Low Activity ◽  
Severe Growth ◽  
Insulin Like Activity

ABSTRACT Severe growth retardation is found in patients with high levels of growth hormone and low sulphation factor activity or somatomedin. Also nonsuppressible insulin-like activity (NSILA-s) has been found to be very low in a patient with this condition as measured by bioassay, protein binding assay and radioimmunoassay and to be below activities found in hypopituitary patients. Partially purified NSILA-s restored the ability of serum to increase sulphation activity although full restitution may still depend on other factors. These findings support the hypothesis that NSILA-s belongs to the family of somatomedin and thus is involved in promoting growth, and that low activity of these growth factors is a primary cause of the growth retardation found in these patients.

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

2010 ◽  
Vol 152A (5) ◽  
pp. 1322-1325 ◽  
Author(s):  
Akira Nishimura ◽  
Yoko Hiraki ◽  
Hiroko Shimoda ◽  
Gen Nishimura ◽  
Hiromi Tadaki ◽  
...  
Keyword(s):  
Growth Retardation ◽  
De Novo ◽  
Severe Growth

SEVERE GROWTH RETARDATION IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE

PEDIATRICS ◽  
1970 ◽  
Vol 45 (3) ◽  
pp. 386-393
Author(s):  
Thomas D. McCaffery ◽  
Khosrow Nasr ◽  
A. M. Lawrence ◽  
Joseph B. Kirsner
Keyword(s):  
Inflammatory Bowel Disease ◽  
Growth Hormone ◽  
Corticosteroid Therapy ◽  
Growth Retardation ◽  
Bowel Disease ◽  
Gastrointestinal Symptoms ◽  
Hormone Response ◽  
The Third ◽  
Inflammatory Bowel ◽  
Severe Growth

From a group of 130 youngsters with inflammatory bowel disease, 22 were severely growth retarded (below the third percentile in height). This had preceded gastrointestinal symptoms for 1 to 11.4 years in 8 patients and corticosteroid therapy in 14. Endocrine evaluation demonstrated abnormally low 24-hour urinary gonadotropins in five of six patients more than age 16, and depressed growth hormone response to insulininduced hypoglycemia in 11 of 13 tested. Growth retardation in this group was attributed to a secondary hypopituitarism.

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