Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Allied Health Professionals’ Corner
Author Reply
Book Review
Brief Communication
Case Report
Case Series
Clinical Case Report
Clinicopathological Conference
Commentary
Commentary : Patient’s Voice
Corrigendum
Editorial
Editorial – World Kidney Day 2016
Editorial Commentary
Erratum
Foreward
Guideline
Guidelines
Image in Nephrology
Images in Nephrology
In-depth Review
Letter to Editor
Letter to the Editor
Letter to the Editor – Authors’ reply
Letters to Editor
Literature Review
Nephrology in India
Notice of Retraction
Obituary
Original Article
Perspective
Research Letter
Retraction Notice
Review
Review Article
Short Review
Special Article
Special Feature
Special Feature - World Kidney Day
Systematic Review
Technical Note
Varia
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Allied Health Professionals’ Corner
Author Reply
Book Review
Brief Communication
Case Report
Case Series
Clinical Case Report
Clinicopathological Conference
Commentary
Commentary : Patient’s Voice
Corrigendum
Editorial
Editorial – World Kidney Day 2016
Editorial Commentary
Erratum
Foreward
Guideline
Guidelines
Image in Nephrology
Images in Nephrology
In-depth Review
Letter to Editor
Letter to the Editor
Letter to the Editor – Authors’ reply
Letters to Editor
Literature Review
Nephrology in India
Notice of Retraction
Obituary
Original Article
Perspective
Research Letter
Retraction Notice
Review
Review Article
Short Review
Special Article
Special Feature
Special Feature - World Kidney Day
Systematic Review
Technical Note
Varia
View/Download PDF

Translate this page into:

Letter to the Editor
34 (
6
); 678-678
doi:
10.25259/IJN_308_2024

From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis

Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India

Corresponding author: Nitish Kumar, Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. E-mail: doctornitishkumar@gmail.com

Licence
This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

How to cite this article: Abhinay A, Panda S, Singh A, Kumar N. From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis. Indian J Nephrol. 2024;34:678. doi: 10.25259/IJN_308_2024

Dear Editor,

A 9-year-old girl presented with growth failure, polyuria, and polydipsia for 4 years. Physical examination revealed rachitic rosary, wrist widening, and double malleoli without facial dysmorphism. There was a family history of infantile death from severe acute malnutrition. Laboratory investigations revealed normal anion-gap metabolic acidosis, hypokalemia, alkaline urine, and hypercalciuria. On the abdominal sonogram, bilateral medullary nephrocalcinosis was seen. Clinical and laboratory features were suggestive of distal renal tubular acidosis (dRTA). To confirm the diagnosis, genetic analysis was performed, revealing a novel heterozygous variant (c.10C>T, p.Arg4ter) in exon 2 of the Hedgehog Acyltransferase (HHAT) gene, which is classified as a likely pathogenic variant by the American College of Medical Genetics. The variant was confirmed with Sanger sequencing, as shown in [Figure 1]. The final diagnosis was dRTA due to Nivelon-Nivelon-Mabille syndrome (NNMS). Clinical screening of family members didn’t reveal any abnormality. Parents were given genetic counseling.

Sanger sequencing data (electropherogram) showing nucleotide change at c.10C>T (p.Arg4Ter) in the HHAT gene. HHAT: Hedgehog Acyltransferase. Red, green, black, and blue color peaks in electropherogram show thymine, adenine, guanine, and cytosine bases, respectively.
Figure 1:
Sanger sequencing data (electropherogram) showing nucleotide change at c.10C>T (p.Arg4Ter) in the HHAT gene. HHAT: Hedgehog Acyltransferase. Red, green, black, and blue color peaks in electropherogram show thymine, adenine, guanine, and cytosine bases, respectively.

NNMS is a rare autosomal recessive disorder that was originally reported in 1992 with antenatal severe dwarfism, global chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris, and a papillous coloboma.1 On extensive search of literature on NNMS, we found three cases. Abdel-Salam et al. (2019) reported two sisters from Saudi Arabia with microcephaly, cerebellar vermis hypoplasia, infantile-onset seizures, brachydactyly, and dysplastic nails.2 Saini et al. (2023) reported a patient with biallelic variants in HHAT, who presented with muscle spasm, microcephaly, short stature, muscle hypertrophy, and facial dysmorphism.3 There has been no report of renal involvement in NNMS. This letter intends to raise awareness among readers concerning the possibility of renal involvement in NNMS and HHAT gene-related disorders.

Supplementary Files

Acknowledgement

We thank all the residents and staff who were involved in the care of this patient.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , , , , et al. New autosomal recessive chondrodysplasia—pseudohermaphrodism syndrome. Clin Dysmorphol. 1992;1:221-8.
    [PubMed] [Google Scholar]
  2. , , , , , . Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. Am J Med Genet A. 2019;179:1053-7.
    [CrossRef] [PubMed] [Google Scholar]
  3. , , , , , , et al. Muscle spasms as presenting feature of nivelon-nivelon-mabile syndrome. Am J Med Genet A. 2023;191:238-48.
    [CrossRef] [PubMed] [Google Scholar]

Fulltext Views
487

PDF downloads
971
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections