scholarly journals Hereditary tubulopathies accompanying polyuia

2021 ◽  
Vol 12 (3) ◽  
pp. 445-451
Author(s):  
M. O. Ryznychuk ◽  
V. P. Pishak ◽  
N. V. Bacyuk-Ponych ◽  
O. V. Pishak
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Type A ◽  
Type I ◽  
Renal Tubules ◽  
Type Ii ◽  
Type B ◽  
Recessive Type

Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and pseudohyperaldosteronism. Types of renal glucosuria are described, namely: type A, type B and the most severe type 0. Type A is characterized by a low filtration threshold and low glucose reabsorption. The type of inheritance is autosomal recessive. Type B, autosomal dominant, is characterized by uneven activity of glucose transport, in which its reabsorption is reduced only in some nephrons. That is, normal reabsorption of glucose is maintained, but the filtration threshold of the latter is reduced. Type 0 with a severe course is characterized by complete inability of epithelial cells of the proximal tubules to reabsorb glucose. Nephrogenic diabetes insipidus is a rare inherited disease caused by impaired response of the renal tubules to antidiuretic hormone (ADH). Depending on the degree of inability to concentrate urine, there are complete and partial forms. It is divided into nephrogenic diabetes insipidus type I (X-linked recessive); nephrogenic diabetes insipidus type II (autosomal recessive and autosomal dominant) and nephrogenic diabetes insipidus syndrome with dementia and intracerebral calcifications (type of inheritance remains unknown). Children with autosomal recessive type of inheritance suffer from the more severe disease course. Pseudohypoaldosteronism is characterized by a special condition of the renal tubules which is due to insufficient sensitivity of the tubular epithelium to aldosterone, which in turn leads to hyperaldosteronism, the development of hyponatremia, metabolic acidosis with hyperkalemia, polydipsia and polyuria, decreased sodium reabsorption and retardation of the child's physical development. The classification includes three syndromes of pseudohypoaldosteronism, namely: type I (PHA1), which is divided into PHA1A (autosomal dominant, renal), PHA1B (autosomal recessive, systemic); type II (PHA2; Gordon’s syndrome), type III (secondary), which develops as a result of renal pathology.

scholarly journals ANTIGENIC RELATIONSHIPS OF BENCE JONES PROTEINS, MYELOMA GLOBULINS, AND NORMAL HUMAN γ-GLOBULIN

1963 ◽  
Vol 117 (1) ◽  
pp. 81-104 ◽  
Author(s):  
Shunsuke Migita ◽  
Frank W. Putnam
Keyword(s):  
Type A ◽  
Antigenic Determinants ◽  
Type I ◽  
Starch Gel Electrophoresis ◽  
Type Ii ◽  
Type B ◽  
Bence Jones Protein ◽  
Starch Gel ◽  
Antigenic Relationships ◽  
Bence Jones Proteins

By means of immunodiffusion and immunoelectrophoresis study has been made of antigenic relationships of Bence Jones proteins, and the three classes of normal and pathological immunoglobulins, 7S γ, ß2A, and ß2M. All thirty-nine Bence Jones proteins studied could be classified into either one of two distinct antigenic types, A or B. Both types are related to the immunoelectrophoretically slow (S) fragment of a papain digest of normal γ-globulin; B is related more closely than A, but neither has antigenic determinants in common with the fast (F) fragment. The 7S γ myeloma globulins were either immunological type I or II. The papain digests of these proteins produced the S and F precipitin lines in immunoelectrophoresis but multiple bands in starch gel electrophoresis, especially in the F region. The S fraction of type I myeloma globulins is antigenically similar to Bence Jones protein of type B, and the S component of type II myeloma globulins has antigenic determinants in common with type A Bence Jones protein. Correspondingly, myeloma patients with type I globulins and proteinuria usually excrete type B Bence Jones proteins, whereas patients with type II excrete type A proteins. The F fragment is the part common to normal 7S γ-globulin and types I and II myeloma globulins but is absent in ß2A and ß2M pathological globulins and in both types of Bence Jones proteins. Papain digests of ß2A myeloma globulins produced a single precipitin line in immunoelectrophoresis. ß2A myeloma globulins appeared to have two antigenic units, one in common with type B Bence Jones protein and normal γ-globulin, and another specific to ß2A. The ß2A myeloma patients excreted type B Bence Jones protein. The papain digest of a macroglobulin produced two precipitin lines, the faster of which had antigenic determinants in common with type B Bence Jones protein, the slower seemed specific for the macroglobulin. Five serum micromolecular globulins proved to be either type A or B Bence Jones proteins. From the above results, an antigenic map was constructed showing which determinants are shared and which are specific for normal 7S γ-globulin, types I and II myeloma globulins, ß2A myeloma globulins, a macroglobulin, and types A and B Bence Jones proteins.

scholarly journals Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 788
Author(s):  
Hava Peretz ◽  
Ayala Lagziel ◽  
Florian Bittner ◽  
Mustafa Kabha ◽  
Meirav Shtauber-Naamati ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Heterologous Protein ◽  
Heterologous Protein Expression ◽  
Type I ◽  
Type Ii ◽  
Amino Acid Residues ◽  
Cysteine Desulfurase ◽  
Cofactor Binding ◽  
Pathogenic Variants ◽  
Expression Studies

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described. Here, we reported the demographic, clinical, molecular and biochemical characterizations of the remaining cases. Seven out of 20 affected individuals (35%) presented with xanthinuria-related symptoms of varied severity. Among the 10 distinct variants identified, six were novel: c.449G>T (p.(Cys150Phe)), c.1434G>A (p.(Trp478*)), c.1871C>G (p.(Ser624*)) and c.913del (p.(Leu305fs*1)) in the XDH gene and c.1046C>T (p.(Thr349Ileu)) and c.1771C>T (p.(Pro591Ser)) in the MOCOS gene. Heterologous protein expression studies revealed that the p.Cys150Phe variant within the Fe/S-I cluster-binding site impairs XDH biogenesis, the p.Thr349Ileu variant in the NifS-like domain of MOCOS affects protein stability and cysteine desulfurase activity, while the p.Pro591Ser and a previously described p.Arg776Cys variant in the C-terminal domain affect Molybdenum cofactor binding. Based on the results of haplotype analyses and historical genealogy findings, the potential dispersion of the identified variants is discussed. As far as we are aware, this is the largest cohort of xanthinuria cases described so far, substantially expanding the repertoire of pathogenic variants, characterizing structurally and functionally essential amino acid residues in the XDH and MOCOS proteins and addressing the population genetic aspects of classical xanthinuria.

Filamin-Associated Dysplasias/Dysostoses and Related Disorders

2018 ◽  
pp. 307-350
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Collagen metabolism in two types of autosomal dominant osteopetrosis during stimulation with thyroid hormones

1995 ◽  
Vol 133 (5) ◽  
pp. 557-563 ◽  
Author(s):  
Jens Bollerslev ◽  
Sian Thomas ◽  
Ellen Grodum ◽  
Kim Brixen ◽  
Ole Djøseland
Keyword(s):  
Thyroid Hormones ◽  
Type I Collagen ◽  
Autosomal Dominant ◽  
Collagen Metabolism ◽  
Significant Response ◽  
Type I ◽  
Type Ii ◽  
Creatinine Ratio ◽  
Carboxy Terminal ◽  
Autosomal Dominant Osteopetrosis

Bollerslev J, Thomas S, Grodum E, Brixen K, Djøseland 0. Collagen metabolism in two types of autosomal dominant osteopetrosis during stimulation with thyroid hormones. Eur J Endocrinol 1995;133:557–63. ISSN 0804–4643 In order to investigate collagen metabolism in two different types of autosomal dominant osteopetrosis (ADO), eight patients with type I (aged 23–61 years, mean 40.4 years) and nine patients with type II ADO (aged 20–49 years, mean 32.8 years) were compared with ten normal controls (aged 22–54 years, mean 35.4 years). The subjects were treated with 100 μg of triiodothyronine (T3) daily for 7 days and followed for a total of 4 weeks. Serum T3 increased in all subjects and a corresponding suppression of thyroid-stimulating hormone (TSH) was observed. Serum carboxy-terminal propeptide of type I collagen (S-PICP) in the control and type I groups showed no difference at baseline, whereas type II was lower than controls (p < 0.01). No significant alterations following stimulation were observed in any of the groups. Serum BGP (osteocalcin) values in the two patient groups were insignificantly lower than controls both at baseline and throughout the study. Following stimulation, a significant response was seen in the three groups (p < 0.001). The increases during the treatment period (delta values) for controls, type I and type II were 47.6% (p < 0.01), 51.7% (p = 0.05) and 34.8% (NS), respectively, with no difference between the groups. Serum bone-specific alkaline phosphatase (S-ALP) was not different between the groups and no alterations were observed in relation to treatment. The serum N-terminal propeptide of type III collagen (S-PIIINP) showed no difference at baseline between type I and controls but was significantly higher (p < 0.003) in type II than in the controls. After stimulation, significant responses were observed in all three groups (p < 0.001). Serum PIIINP increased following 1 week of treatment by 64% (p < 0.01), 41% (p < 0.02) and 18% (NS), respectively. Serum carboxy-terminal telopeptide of type I collagen (SICTP) did not differ between type I and controls at baseline but was increased in type II (p < 0.04), as it was throughout the observation period (p < 0.12 and p < 0.02). A significant response was observed in the three groups following stimulation. The delta values were 69% (p = 0.005), 56% (p < 0.02) and 34% (p < 0.02), respectively. The urinary hydroxyproline (OHP)/creatinine ratio did not differ between the groups either at baseline or following stimulation. A significant response (p < 0.001) was observed, with delta values of 44.2% (p < 0.06), 35.9% (p < 0.04) and 34.3% (p < 0.01), respectively. The two bone resorptive markers (S-ICTP and OHP/creatinine ratio) were correlated significantly at baseline for all three groups. It is concluded that collagen metabolism is disturbed in type II ADO, which might reflect an increased turnover of extra-osseous collagen. Because ICTP levels are increased in disorders with increased extra-osseous collagen turnover, we question the suitability of this parameter as a sensitive marker of bone resorption. Jens Bollerslev, Department of Medical Endocrinology, National University Hospital, N-0027 Oslo, Norway

scholarly journals A case report of achondrogenesis type II (Langer-Saldino achondrogenesis)

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Saurabh Maheshwari ◽  
Dilip Ingole ◽  
Samar Chatterjee ◽  
Uddandam Rajesh ◽  
Varun Anand
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Antenatal Diagnosis ◽  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Rare Entity ◽  
Case Presentation ◽  
Structural Mutations ◽  
Achondrogenesis Type

Abstract Background Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as Langer-Saldino achondrogenesis. It is characterized by severe micromelia (shortening of entire limb), narrow chest, and prominent abdomen. It shares the striking feature of partial or complete vertebral body demineralization with achondrogenesis type I. Case presentation We present a case with antenatal diagnosis of this rare entity which was confirmed by post-termination radiographs of abortus. Conclusion The imaging plays a cardinal role in the diagnosis of this condition. This case represents only the 4th case of this rare entity from India.

scholarly journals Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

2019 ◽  
Vol 09 (02) ◽  
pp. 125-131 ◽  
Author(s):  
Neerja Gupta ◽  
Nitika Langeh ◽  
Aparajit Sridharan ◽  
Madhulika Kabra
Keyword(s):  
Base Pair ◽  
Autosomal Recessive ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Homozygous Deletion ◽  
Cutis Laxa ◽  
Type I ◽  
Recessive Type ◽  
Single Base Pair ◽  
Biallelic Mutations

AbstractAutosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S.

scholarly journals Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus

2003 ◽  
Vol 50 (4) ◽  
pp. 473-476 ◽  
Author(s):  
Toshihiro TAJIMA ◽  
Kouji OKUHARA ◽  
Kouhei SATOH ◽  
Jun NAKAE ◽  
Kenji FUJIEDA
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Aquaporin 2
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